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Gene id 1
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Gene Summary
Gene Symbol A1BG   Gene   UCSC   Ensembl
Aliases A1B, ABG, GAB, HYST2477
Gene name alpha-1-B glycoprotein
Alternate names alpha-1B-glycoprotein, HEL-S-163pA, epididymis secretory sperm binding protein Li 163pA,
Gene location 19q13.43 (58353498: 58346805)     Exons: 8     NC_000019.10
Gene summary(Entrez) The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008]
OMIM 138670

SNPs

 rs4244593

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000679.2   g.17516904T>A
CM000679.2   g.17516904T>G
NC_000017.10   g.17420218T>G
NC_000017.11   g.17516904T>A
NC_000017.11   g.17516904T>G
NM_001267551.1   c.255-4250A>C
NM_001267551.1   c.255-4250A>T
NM_001267552.1   c.321-4250A>C
NM_001267552.1   c.321-4250A>T
NM_007169.2   c.210-4250A>C
NM_007169.2   c.210-4250A>T
NM_148172.2   c.321-4250A>C
NM_148172.2   c.321-4250A>T
NM_148173.1   c.210-4250A>C
NM_148173.1   c.210-4250A>T
rs1042522

Strand:    Allele origin: G(germline)/A(germline)/C(germline)  Allele change: A/C/G   Mutation type: snp

CM000679.2   g.7676154G>C
NC_000017.10   g.7579472G=
NC_000017.10   g.7579472G>C
NC_000017.10   g.7579472G>T
NC_000017.11   g.7676154G=
NC_000017.11   g.7676154G>C
NC_000017.11   g.7676154G>T
NG_017013.2   g.16397C=
NG_017013.2   g.16397C>A
NG_017013.2   g.16397C>G
NM_000546.5   c.215C=
NM_000546.5   c.215C>A
NM_000546.5   c.215C>G
NM_001126112.2   c.215C=
NM_001126112.2   c.215C>A
NM_001126112.2   c.215C>G
NM_001126113.2   c.215C=
NM_001126113.2   c.215C>A
NM_001126113.2   c.215C>G
NM_001126114.2   c.215C=
NM_001126114.2   c.215C>A
NM_001126114.2   c.215C>G
NM_001126115.1   c.-939C=
NM_001126115.1   c.-939C>A
NM_001126115.1   c.-939C>G
NM_001126116.1   c.-939C=
NM_001126116.1   c.-939C>A
NM_001126116.1   c.-939C>G
NM_001126117.1   c.-939C=
NM_001126117.1   c.-939C>A
NM_001126117.1   c.-939C>G
NM_001126118.1   c.98C=
NM_001126118.1   c.98C>A
NM_001126118.1   c.98C>G
NM_001276695.1   c.98C=
NM_001276695.1   c.98C>A
NM_001276695.1   c.98C>G
NM_001276696.1   c.98C=
NM_001276696.1   c.98C>A
NM_001276696.1   c.98C>G
NM_001276697.1   c.-1020C=
NM_001276697.1   c.-1020C>A
NM_001276697.1   c.-1020C>G
NM_001276698.1   c.-1020C=
NM_001276698.1   c.-1020C>A
NM_001276698.1   c.-1020C>G
NM_001276699.1   c.-1020C=
NM_001276699.1   c.-1020C>A
NM_001276699.1   c.-1020C>G
NM_001276760.1   c.98C=
NM_001276760.1   c.98C>A
NM_001276760.1   c.98C>G
NM_001276761.1   c.98C=
NM_001276761.1   c.98C>A
NM_001276761.1   c.98C>G
NP_000537.3   p.Pro72=
NP_000537.3   p.Pro72Arg
NP_000537.3   p.Pro72His
NP_001119584.1   p.Pro72=
NP_001119584.1   p.Pro72Arg
NP_001119584.1   p.Pro72His
NP_001119585.1   p.Pro72=
NP_001119585.1   p.Pro72Arg
NP_001119585.1   p.Pro72His
NP_001119586.1   p.Pro72=
NP_001119586.1   p.Pro72Arg
NP_001119586.1   p.Pro72His
NP_001119590.1   p.Pro33=
NP_001119590.1   p.Pro33Arg
NP_001119590.1   p.Pro33His
NP_001263624.1   p.Pro33=
NP_001263624.1   p.Pro33Arg
NP_001263624.1   p.Pro33His
NP_001263625.1   p.Pro33=
NP_001263625.1   p.Pro33Arg
NP_001263625.1   p.Pro33His
NP_001263689.1   p.Pro33=
NP_001263689.1   p.Pro33Arg
NP_001263689.1   p.Pro33His
NP_001263690.1   p.Pro33=
NP_001263690.1   p.Pro33Arg
NP_001263690.1   p.Pro33His
XR_243565.1   n.354C=
XR_243565.1   n.354C>A
XR_243565.1   n.354C>G
XR_243566.1   n.354C=
XR_243566.1   n.354C>A
XR_243566.1   n.354C>G
Clinical Significance: drug-response

rs1042839

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000673.2   g.101051471G>A
NC_000011.10   g.101051471G>A
NC_000011.9   g.100922202G>A
NG_016475.1   g.83343C>T
NM_000926.4   c.2310C>T
NM_001202474.3   c.1818C>T
NM_001271161.2   c.1512C>T
NM_001271162.1   c.528C>T
NP_000917.3   p.His770=
NP_001189403.1   p.His606=
NP_001258090.1   p.His504=
NP_001258091.1   p.His176=
NR_073141.2   n.2303C>T
NR_073142.2   n.2186C>T
NR_073143.2   n.1997C>T
XP_006718921.1   p.His770=
rs1048943

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000677.2   g.74720644T>C
NC_000015.10   g.74720644T>C
NC_000015.9   g.75012985T>A
NC_000015.9   g.75012985T>C
NC_000015.9   g.75012985T>G
NG_008431.2   g.3103T>A
NG_008431.2   g.3103T>C
NG_008431.2   g.3103T>G
NM_000499.4   c.1384A>C
NM_000499.4   c.1384A>G
NM_000499.4   c.1384A>T
NM_001319216.1   c.1297A>C
NM_001319216.1   c.1297A>G
NM_001319216.1   c.1297A>T
NM_001319217.1   c.1384A>C
NM_001319217.1   c.1384A>G
NM_001319217.1   c.1384A>T
NP_000490.1   p.Ile462Leu
NP_000490.1   p.Ile462Phe
NP_000490.1   p.Ile462Val
NP_001306145.1   p.Ile433Leu
NP_001306145.1   p.Ile433Phe
NP_001306145.1   p.Ile433Val
NP_001306146.1   p.Ile462Leu
NP_001306146.1   p.Ile462Phe
NP_001306146.1   p.Ile462Val
XP_005254242.1   p.Ile462Leu
XP_005254242.1   p.Ile462Phe
XP_005254242.1   p.Ile462Val
XP_005254243.1   p.Ile462Leu
XP_005254243.1   p.Ile462Phe
XP_005254243.1   p.Ile462Val
XP_005254244.1   p.Ile434Leu
XP_005254244.1   p.Ile434Phe
XP_005254244.1   p.Ile434Val
XP_005254245.1   p.Ile433Leu
XP_005254245.1   p.Ile433Phe
XP_005254245.1   p.Ile433Val
XP_005254246.1   p.Ile201Leu
XP_005254246.1   p.Ile201Phe
XP_005254246.1   p.Ile201Val
XP_016877442.1   p.Ile434Val
rs1056827

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000664.2   g.38075034C>A
NC_000002.11   g.38302177C>A
NC_000002.12   g.38075034C>A
NG_008386.2   g.6068G>T
NM_000104.3   c.355G>T
NP_000095.2   p.Ala119Ser
Clinical Significance: Benign

rs1056836

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000664.2   g.38071060G>C
NC_000002.11   g.38298203C>G
NC_000002.12   g.38071060G=
NC_000002.12   g.38071060G>C
NG_008386.2   g.10042C=
NG_008386.2   g.10042C>G
NM_000104.3   c.1294C=
NM_000104.3   c.1294C>G
NP_000095.2   p.Leu432=
NP_000095.2   p.Leu432Val
Clinical Significance: drug-response

rs1056837

Strand:    Allele origin: T(germline)/C(germline)  Allele change: A/C/T   Mutation type: snp

CM000664.2   g.38071007A>G
NC_000002.11   g.38298150A>G
NC_000002.12   g.38071007A>G
NG_008386.2   g.10095T>C
NM_000104.3   c.1347T>C
NP_000095.2   p.Asp449=
Clinical Significance: Benign

rs1061622

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000663.2   g.12192898T>G
NC_000001.10   g.12252955T>G
NC_000001.11   g.12192898T>G
NG_029791.1   g.30896T>G
NM_001066.2   c.587T>G
NP_001057.1   p.Met196Arg
XP_011540362.1   p.Met196Arg
XP_011540365.1   p.Met196Arg
XP_016857700.1   p.Met196Arg
XP_016857701.1   p.Met145Arg
XP_016857702.1   p.Met145Arg
XP_016857703.1   p.Met1Arg
XP_016857704.1   p.Met1Arg
XR_244793.1   n.692T>G
rs1062033

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000677.2   g.51255741C>G
NC_000015.10   g.51255741C>G
NC_000015.9   g.51547938C>G
NG_007982.1   g.87858G>C
NM_000103.3   c.-38-12791G>C
NM_001347248.1   c.-38-12791G>C
NM_001347249.1   c.-38-12791G>C
NM_001347250.1   c.-38-12791G>C
NM_001347251.1   c.-38-12791G>C
NM_001347252.1   c.-38-12791G>C
NM_001347253.1   c.-262G>C
NM_031226.2   c.-38-12791G>C
NR_146310.1   n.195-22242C>G
rs10757269

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000671.2   g.22072265A>C
CM000671.2   g.22072265A>G
NC_000009.11   g.22072264A>G
NC_000009.12   g.22072265A>C
NC_000009.12   g.22072265A>G
NR_003529.3   n.2448+5912A>C
NR_003529.3   n.2448+5912A>G
NR_047532.1   n.1075+15878A>C
NR_047532.1   n.1075+15878A>G
NR_047533.1   n.645-5414A>C
NR_047533.1   n.645-5414A>G
NR_047534.1   n.644+23037A>C
NR_047534.1   n.644+23037A>G
NR_047535.1   n.780+15878A>C
NR_047535.1   n.780+15878A>G
NR_047536.1   n.644+23037A>C
NR_047536.1   n.644+23037A>G
NR_047537.1   n.780+15878A>C
NR_047537.1   n.780+15878A>G
NR_047538.1   n.644+23037A>C
NR_047538.1   n.644+23037A>G
NR_047539.1   n.2449-5414A>C
NR_047539.1   n.2449-5414A>G
NR_047540.1   n.1049-5414A>C
NR_047540.1   n.1049-5414A>G
NR_047541.1   n.856-5414A>C
NR_047541.1   n.856-5414A>G
NR_047542.1   n.781-5414A>C
NR_047542.1   n.781-5414A>G
NR_047543.1   n.780+15878A>C
NR_047543.1   n.780+15878A>G
NR_120536.1   n.644+23037A>C
NR_120536.1   n.644+23037A>G
rs10757272

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.22088261C>T
NC_000009.11   g.22088260C>T
NC_000009.12   g.22088261C>T
NR_003529.3   n.2449-8111C>T
NR_047532.1   n.1076-4047C>T
NR_047534.1   n.645-8997C>T
NR_047535.1   n.781-24059C>T
NR_047536.1   n.645-24059C>T
NR_047537.1   n.780+31874C>T
NR_047538.1   n.645-31939C>T
NR_047543.1   n.781-24059C>T
NR_120536.1   n.645-32243C>T
rs10965215

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22029446G>A
NC_000009.11   g.22029445G>A
NC_000009.12   g.22029446G>A
NR_003529.3   n.385G>A
NR_047532.1   n.385G>A
NR_047533.1   n.372-17305G>A
NR_047534.1   n.372-17305G>A
NR_047535.1   n.372-17305G>A
NR_047536.1   n.372-17305G>A
NR_047537.1   n.372-17305G>A
NR_047538.1   n.372-17305G>A
NR_047539.1   n.385G>A
NR_047540.1   n.372-17305G>A
NR_047541.1   n.372-17305G>A
NR_047542.1   n.372-17305G>A
NR_047543.1   n.372-17305G>A
NR_120536.1   n.372-17305G>A
rs10965235

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000671.2   g.22115106C>A
NC_000009.11   g.22115105C>A
NC_000009.12   g.22115106C>A
NR_003529.3   n.2908+1307C>A
NR_047532.1   n.1697+1307C>A
NR_047534.1   n.961+1307C>A
NR_047535.1   n.856+2711C>A
NR_047536.1   n.720+2711C>A
NR_047537.1   n.781-5094C>A
NR_047538.1   n.645-5094C>A
NR_047543.1   n.990+1307C>A
NR_120536.1   n.645-5398C>A
rs6277

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp

  
NC_000011.9   g.113283459G>A
NC_000011.10   g.113412737G>A
NG_008841.1   g.67543C>T
NM_000795.3   c.957C>T
NM_016574.3   c.870C>T
NP_057658.2   p.Pro290=
NP_000786.1   p.Pro319=
XM_005271425.1   c.957C>T
XM_005271426.1   c.954C>T
XM_017017296.1   c.957C>T
XP_005271483.1   p.P
Clinical Significance: Benign

rs11264799

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000663.2   g.157700967C>T
NC_000001.10   g.157670757C>T
NC_000001.11   g.157700967C>T
NG_023241.1   g.4891G>A
NM_001320333.1   c.-402G>A
NM_052939.3   c.-402G>A
NR_135214.1   n.-95G>A
NR_135215.1   n.-95G>A
NR_135216.1   n.-95G>A
NR_135217.1   n.-95G>A
XR_241064.1   n.-204G>A
XR_241065.1   n.-204G>A
XR_241066.1   n.-204G>A
rs10046

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp

  
NG_007982.1   g.132810C>T
NC_000015.9   g.51502986G>A
NC_000015.10   g.51210789G>A
NM_000103.3   c.*19C>T
NM_001347249.1   c.*19C>T
NM_001347248.1   c.*19C>T
NM_001347252.1   c.*19C>T
NM_001347251.1   c.*19C>T
NM_001347250.1   c.*19C>T
NM_001347256.1   c.*19C>T
NM_001347255  
Clinical Significance: Benign

rs1143704

Strand:    Allele origin:   Allele change: A/T   Mutation type: snp

CM000677.2   g.51218505T>A
NC_000015.10   g.51218505T>A
NC_000015.9   g.51510702T>A
NG_007982.1   g.125094A>T
NM_000103.3   c.743+36A>T
NM_001347248.1   c.743+36A>T
NM_001347249.1   c.743+36A>T
NM_001347250.1   c.743+36A>T
NM_001347251.1   c.743+36A>T
NM_001347252.1   c.743+36A>T
NM_001347253.1   c.743+36A>T
NM_001347254.1   c.743+36A>T
NM_001347255.1   c.743+36A>T
NM_001347256.1   c.743+36A>T
NM_031226.2   c.743+36A>T
NR_146310.1   n.195-59478T>A
rs11549465

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000676.2   g.61740839C>T
NC_000014.8   g.62207557C>T
NC_000014.9   g.61740839C>T
NG_029606.1   g.50439C>T
NM_001243084.1   c.1816C>T
NM_001530.3   c.1744C>T
NM_181054.2   c.1744C>T
NP_001230013.1   p.Pro606Ser
NP_001521.1   p.Pro582Ser
NP_851397.1   p.Pro582Ser
NR_144368.1   n.213+10046G>A
XP_005267630.1   p.Pro583Ser
XP_005267631.1   p.Pro583Ser
XR_001750789.1   n.213+10046G>A
rs11568818

Strand:    Allele origin:   Allele change: A/G/T   Mutation type: snp

CM000673.2   g.102530930T>A
CM000673.2   g.102530930T>C
NC_000011.10   g.102530930T>A
NC_000011.10   g.102530930T>C
NC_000011.9   g.102401661T>C
NM_002423.4   c.-230A>G
NM_002423.4   c.-230A>T
rs222857

Strand: +   Allele origin: unknown  Allele change: A/C/G/T   Mutation type: snp

  
NC_000017.10   g.7164563C>A
NC_000017.10   g.7164563C>G
NC_000017.10   g.7164563C>T
NC_000017.11   g.7261244C>A
NC_000017.11   g.7261244C>G
NC_000017.11   g.7261244C>T
NM_001185022.1   c.224-259G>A
NM_001185022.1   c.224-259G>C
NM_001185022.1   c.224-259G>T
NM_001185023.1  
rs12248560

Strand:    Allele origin: T(germline)/A(germline)/C(germline)  Allele change: A/C/T   Mutation type: snp

CM000672.2   g.94761900C>T
NC_000010.10   g.96521657C>A
NC_000010.10   g.96521657C>T
NC_000010.11   g.94761900C>A
NC_000010.11   g.94761900C>T
NG_008384.2   g.4195C>A
NG_008384.2   g.4195C>T
NG_055436.1   g.1260C>A
NG_055436.1   g.1260C>T
NM_000769.2   c.-806C>A
NM_000769.2   c.-806C>T
Clinical Significance: drug-response

rs12483377

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/G   Mutation type: snp

CM000683.2   g.45511195G>A
NC_000021.8   g.46931109G>A
NC_000021.9   g.45511195G>A
NG_011903.1   g.111004G>A
NG_028278.2   g.56949C>T
NM_030582.3   c.4309G>A
NM_130444.2   c.5014G>A
NM_130445.2   c.3769G>A
NM_130445.3   c.3769G>A
NP_085059.2   p.Asp1437Asn
NP_569711.2   p.Asp1672Asn
NP_569712.2   p.Asp1257Asn
XP_005261235.1   p.Asp1441Asn
XP_005261236.1   p.Asp1429Asn
XP_005261237.1   p.Asp1408Asn
XP_005261238.1   p.Asp1261Asn
XP_005261239.1   p.Asp1253Asn
Clinical Significance: Pathogenic

rs1255998

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000676.2   g.64227153G>C
CM000676.2   g.64227153G>T
NC_000014.8   g.64693871G>C
NC_000014.9   g.64227153G>C
NC_000014.9   g.64227153G>T
NG_011535.1   g.116398C>A
NG_011535.1   g.116398C>G
NG_011756.1   g.379189G>C
NG_011756.1   g.379189G>T
NM_001040275.1   c.*380C>A
NM_001040275.1   c.*380C>G
NM_001214902.1   c.*737C>A
NM_001214902.1   c.*737C>G
NM_001291712.1   c.*380C>A
NM_001291712.1   c.*380C>G
NM_001291723.1   c.*380C>A
NM_001291723.1   c.*380C>G
NR_073496.1   n.2472C>A
NR_073496.1   n.2472C>G
NR_073505.1   n.2611C>G
XR_001750187.1   n.2304C>A
XR_001750187.1   n.2304C>G
rs1333042

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22103814A>G
NC_000009.11   g.22103813A>G
NC_000009.12   g.22103814A>G
NR_003529.3   n.2698+6450A>G
NR_047532.1   n.1487+6450A>G
NR_047534.1   n.751+6450A>G
NR_047535.1   n.781-8506A>G
NR_047536.1   n.645-8506A>G
NR_047537.1   n.781-16386A>G
NR_047538.1   n.645-16386A>G
NR_047543.1   n.781-8506A>G
NR_120536.1   n.645-16690A>G
rs1537370

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.22084311C>T
NC_000009.11   g.22084310C>T
NC_000009.12   g.22084311C>T
NR_003529.3   n.2449-12061C>T
NR_047532.1   n.1076-7997C>T
NR_047534.1   n.645-12947C>T
NR_047535.1   n.780+27924C>T
NR_047536.1   n.645-28009C>T
NR_047537.1   n.780+27924C>T
NR_047538.1   n.644+35083C>T
NR_047543.1   n.780+27924C>T
NR_120536.1   n.644+35083C>T
rs1544410

Strand:    Allele origin:   Allele change: A/C/G/T   Mutation type: snp

CM000674.2   g.47846052C>A
CM000674.2   g.47846052C>G
CM000674.2   g.47846052C>T
NC_000012.11   g.48239835C>T
NC_000012.12   g.47846052C>A
NC_000012.12   g.47846052C>G
NC_000012.12   g.47846052C>T
NG_008731.1   g.63980G>A
NG_008731.1   g.63980G>C
NG_008731.1   g.63980G>T
NM_000376.2   c.1024+283G>A
NM_000376.2   c.1024+283G>C
NM_000376.2   c.1024+283G>T
NM_001017535.1   c.1024+283G>A
NM_001017535.1   c.1024+283G>C
NM_001017535.1   c.1024+283G>T
NM_001017536.1   c.1174+283G>A
NM_001017536.1   c.1174+283G>C
NM_001017536.1   c.1174+283G>T
rs1638626

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000672.2   g.117541943C>T
NC_000010.10   g.119301454C>T
NC_000010.11   g.117541943C>T
NG_013009.1   g.4499C>T
NM_001165924.1   c.-1325C>T
NM_004098.3   c.-1325C>T
NR_002791.2   n.574+2363G>A
NR_144378.1   n.493+154G>A
rs16964258

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000677.2   g.51313211A>G
NC_000015.10   g.51313211A>G
NC_000015.9   g.51605408A>G
NG_007982.1   g.30388T>C
NM_000103.3   c.-39+25284T>C
NM_001347248.1   c.-39+10605T>C
NM_001347249.1   c.-39+5222T>C
NM_031226.2   c.-39+10605T>C
NR_107012.1   n.-823A>G
rs743572

Strand: +   Allele origin: unknown  Allele change: A/G/T   Mutation type: snp

  
NC_000010.10   g.104597152A>G
NC_000010.11   g.102837395A>G
NC_000010.11   g.102837395A>T
NG_007955.1   g.5139T>A
NG_007955.1   g.5139T>C
NM_000102.3   c.-34T>A
NM_000102.3   c.-34T>C
Clinical Significance: Benign

rs17524355

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.98253681C>T
NC_000010.10   g.100013438C>T
NC_000010.11   g.98253681C>T
NM_032211.6   c.1707G>A
NP_115587.6   p.Ala569=
XP_005270273.1   p.Ala570=
XP_006718083.1   p.Ala570=
XR_246174.1   n.487+1479C>T
rs17576

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000682.2   g.46011586A>G
NC_000020.10   g.44640225A>G
NC_000020.11   g.46011586A>G
NG_011468.1   g.7679A>G
NM_004994.2   c.836A>G
NP_004985.2   p.Gln279Arg
Clinical Significance: Benign

rs17761446

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000671.2   g.22118103T>G
NC_000009.11   g.22118102T>G
NC_000009.12   g.22118103T>G
NR_003529.3   n.2909-541T>G
NR_047532.1   n.1698-541T>G
NR_047534.1   n.962-541T>G
NR_047535.1   n.857-541T>G
NR_047536.1   n.721-541T>G
NR_047537.1   n.781-2097T>G
NR_047538.1   n.645-2097T>G
NR_047543.1   n.991-541T>G
NR_120536.1   n.645-2401T>G
rs17834457

Strand:    Allele origin:   Allele change: C/G/T   Mutation type: snp

CM000671.2   g.22118027C>G
CM000671.2   g.22118027C>T
NC_000009.11   g.22118026C>T
NC_000009.12   g.22118027C>G
NC_000009.12   g.22118027C>T
NR_003529.3   n.2909-617C>G
NR_003529.3   n.2909-617C>T
NR_047532.1   n.1698-617C>G
NR_047532.1   n.1698-617C>T
NR_047534.1   n.962-617C>G
NR_047534.1   n.962-617C>T
NR_047535.1   n.857-617C>G
NR_047535.1   n.857-617C>T
NR_047536.1   n.721-617C>G
NR_047536.1   n.721-617C>T
NR_047537.1   n.781-2173C>G
NR_047537.1   n.781-2173C>T
NR_047538.1   n.645-2173C>G
NR_047538.1   n.645-2173C>T
NR_047543.1   n.991-617C>G
NR_047543.1   n.991-617C>T
NR_120536.1   n.645-2477C>G
NR_120536.1   n.645-2477C>T
rs1799752

Strand:    Allele origin:   Allele change: -/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/G   Mutation type: in-del

CM000679.2   g.63488529_63488530insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
NC_000017.10   g.61565890_61565891insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
NC_000017.10   g.61565890_61565891insG
NC_000017.11   g.63488529_63488530insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
NG_011648.1   g.16457_16458insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
NG_011648.1   g.16457_16458insG
NM_000789.3   c.2306-119_2306-118insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
NM_000789.3   c.2306-119_2306-118insG
NM_001178057.1   c.584-119_584-118insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
NM_001178057.1   c.584-119_584-118insG
NM_152830.2   c.584-119_584-118insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
NM_152830.2   c.584-119_584-118insG
Clinical Significance: drug-response

rs945635

Strand: +   Allele origin: unknown  Allele change: A/C/G   Mutation type: snp

  
XM_006711145.1   c.-11G>C
XM_006711145.1   c.-11G>T
NM_001320333.1   c.-11G>C
NM_001320333.1   c.-11G>T
XM_005244872.1   c.-11G>C
XM_005244872.1   c.-11G>T
XM_005244870.1   c.-11G>C
XM_005244870.1   c.-11G>T
XM_005244871.1   c.-11G>C
XM_005244871.1   c.-11G>T
NR_135214.1   n.
rs1799814

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000677.2   g.74720646G>A
CM000677.2   g.74720646G>T
NC_000015.10   g.74720646G>A
NC_000015.10   g.74720646G>T
NC_000015.9   g.75012987G>A
NC_000015.9   g.75012987G>T
NG_008431.2   g.3105G>A
NG_008431.2   g.3105G>T
NM_000499.4   c.1382C>A
NM_000499.4   c.1382C>T
NM_001319216.1   c.1295C>A
NM_001319216.1   c.1295C>T
NM_001319217.1   c.1382C>A
NM_001319217.1   c.1382C>T
NP_000490.1   p.Thr461Asn
NP_000490.1   p.Thr461Ile
NP_001306145.1   p.Thr432Asn
NP_001306145.1   p.Thr432Ile
NP_001306146.1   p.Thr461Asn
NP_001306146.1   p.Thr461Ile
XP_005254242.1   p.Thr461Asn
XP_005254242.1   p.Thr461Ile
XP_005254243.1   p.Thr461Asn
XP_005254243.1   p.Thr461Ile
XP_005254244.1   p.Thr433Asn
XP_005254244.1   p.Thr433Ile
XP_005254245.1   p.Thr432Asn
XP_005254245.1   p.Thr432Ile
XP_005254246.1   p.Thr200Asn
XP_005254246.1   p.Thr200Ile
XP_016877442.1   p.Thr433Asn
XP_016877442.1   p.Thr433Ile
rs1799930

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/G   Mutation type: snp

CM000670.2   g.18400593G>A
NC_000008.10   g.18258103G>A
NC_000008.11   g.18400593G>A
NG_012246.1   g.14349G>A
NM_000015.2   c.590G>A
NP_000006.2   p.Arg197Gln
XP_016868427.1   p.Arg197Gln
Clinical Significance: drug-response

rs1800440

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/C/G   Mutation type: snp

CM000664.2   g.38070996T>C
CM000664.2   g.38070996T>G
NC_000002.11   g.38298139T>C
NC_000002.12   g.38070996T>C
NC_000002.12   g.38070996T>G
NG_008386.2   g.10106A>C
NG_008386.2   g.10106A>G
NM_000104.3   c.1358A>C
NM_000104.3   c.1358A>G
NP_000095.2   p.Asn453Ser
NP_000095.2   p.Asn453Thr
Clinical Significance: Likely benign

rs1800610

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000668.2   g.31576050G>A
NC_000006.11   g.31543827G>A
NC_000006.12   g.31576050G>A
NG_007462.1   g.5478G>A
NG_012010.1   g.8952G>A
NM_000594.3   c.186+123G>A
NT_113891.2   g.3053443G>A
NT_113891.3   g.3053337G>A
NT_167244.1   g.2858545G>A
NT_167244.2   g.2908629G>A
NT_167245.1   g.2829368G>A
NT_167245.2   g.2823783G>A
NT_167246.1   g.2886711G>A
NT_167246.2   g.2881091G>A
NT_167247.1   g.2923533G>A
NT_167247.2   g.2917948G>A
NT_167248.1   g.2837465G>A
NT_167248.2   g.2831869G>A
NT_167249.1   g.2874628G>A
NT_167249.2   g.2875330G>A
rs1800750

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.31575186G>A
NC_000006.11   g.31542963G>A
NC_000006.12   g.31575186G>A
NG_007462.1   g.4614G>A
NG_012010.1   g.8088G>A
NM_000594.3   c.-556G>A
NT_113891.2   g.3052579G>A
NT_113891.3   g.3052473G>A
NT_167245.1   g.2828504G>A
NT_167245.2   g.2822919G>A
NT_167246.1   g.2885847G>A
NT_167246.2   g.2880227G>A
NT_167247.1   g.2922669G>A
NT_167247.2   g.2917084G>A
NT_167248.1   g.2836601A=
NT_167248.1   g.2836601A>G
NT_167248.2   g.2831005A=
NT_167248.2   g.2831005A>G
NT_167249.1   g.2873764G>A
NT_167249.2   g.2874466G>A
rs1256049

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

  
NC_000014.9   g.64257333C>T
NC_000014.8   g.64724051C>T
NG_011535.1   g.86218G>A
NM_001040275.1   c.984G>A
NM_001214903.1   c.984G>A
NM_001214902.1   c.984G>A
NM_001271876.1   c.984G>A
NM_001271877.1   c.952+3116G>A
NM_001291712.1   c.984G>A
NM_001291723.1   c.984G>A
NM_001  
rs1801270

Strand:    Allele origin: A(unknown)/C(germline,unknown)  Allele change: A/C/T   Mutation type: snp

CM000668.2   g.36684194C>A
CM000668.2   g.36684194C>T
NC_000006.11   g.36651971C>A
NC_000006.12   g.36684194C>A
NC_000006.12   g.36684194C>T
NG_009364.1   g.10513C>A
NG_009364.1   g.10513C>T
NM_000389.4   c.93C>A
NM_000389.4   c.93C>T
NM_001220777.1   c.93C>A
NM_001220777.1   c.93C>T
NM_001220778.1   c.93C>A
NM_001220778.1   c.93C>T
NM_001291549.1   c.195C>A
NM_001291549.1   c.195C>T
NM_078467.2   c.93C>A
NM_078467.2   c.93C>T
NP_000380.1   p.Ser31=
NP_000380.1   p.Ser31Arg
NP_001207706.1   p.Ser31=
NP_001207706.1   p.Ser31Arg
NP_001207707.1   p.Ser31=
NP_001207707.1   p.Ser31Arg
NP_001278478.1   p.Ser65=
NP_001278478.1   p.Ser65Arg
NP_510867.1   p.Ser31=
NP_510867.1   p.Ser31Arg
XP_005248844.1   p.Ser65Arg
Clinical Significance: Benign

rs1803154

Strand:    Allele origin:   Allele change: A/T   Mutation type: snp

CM000677.2   g.51227908T>A
NC_000015.10   g.51227908T>A
NC_000015.9   g.51520105T>A
NG_007982.1   g.115691A>T
NM_000103.3   c.322A>T
NM_001347248.1   c.322A>T
NM_001347249.1   c.322A>T
NM_001347250.1   c.322A>T
NM_001347251.1   c.322A>T
NM_001347252.1   c.322A>T
NM_001347253.1   c.322A>T
NM_001347254.1   c.322A>T
NM_001347255.1   c.322A>T
NM_001347256.1   c.322A>T
NM_031226.2   c.322A>T
NP_000094.2   p.Lys108Ter
NP_001334177.1   p.Lys108Ter
NP_001334178.1   p.Lys108Ter
NP_001334179.1   p.Lys108Ter
NP_001334180.1   p.Lys108Ter
NP_001334181.1   p.Lys108Ter
NP_001334182.1   p.Lys108Ter
NP_001334183.1   p.Lys108Ter
NP_001334184.1   p.Lys108Ter
NP_001334185.1   p.Lys108Ter
NP_112503.1   p.Lys108Ter
NR_146310.1   n.195-50075T>A
XP_005254247.1   p.Lys108Ter
XP_005254248.1   p.Lys108Ter
XP_005254249.1   p.Lys108Ter
rs1870049

Strand:    Allele origin:   Allele change: C/G/T   Mutation type: snp

CM000677.2   g.51333026T>C
CM000677.2   g.51333026T>G
NC_000015.10   g.51333026T>C
NC_000015.10   g.51333026T>G
NC_000015.9   g.51625223T>C
NC_000015.9   g.51625223T>G
NG_007982.1   g.10573A>C
NG_007982.1   g.10573A>G
NM_000103.3   c.-39+5469A>C
NM_000103.3   c.-39+5469A>G
NM_031226.2   c.-148+5469A>C
NM_031226.2   c.-148+5469A>G
rs2040623

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000669.2   g.17341038A>C
NC_000007.13   g.17380662A>C
NC_000007.14   g.17341038A>C
NM_001621.4   c.2403+810A>C
rs2066853

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000669.2   g.17339486G>A
NC_000007.13   g.17379110G>A
NC_000007.14   g.17339486G>A
NM_001621.4   c.1661G>A
NP_001612.1   p.Arg554Lys
rs2106728

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000669.2   g.17342116T>C
NC_000007.13   g.17381740T>C
NC_000007.14   g.17342116T>C
NM_001621.4   c.2404-805T>C
rs213950

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/G   Mutation type: snp

CM000669.2   g.117559479G>A
NC_000007.13   g.117199533G=
NC_000007.13   g.117199533G>A
NC_000007.14   g.117559479G=
NC_000007.14   g.117559479G>A
NG_016465.4   g.98696G=
NG_016465.4   g.98696G>A
NM_000492.3   c.1408G=
NM_000492.3   c.1408G>A
NP_000483.3   p.Val470=
NP_000483.3   p.Val470Met
NR_149084.1   n.221+1254C=
NR_149084.1   n.221+1254C>T
XP_011514053.1   p.Val500=
XP_011514053.1   p.Val500Met
XP_011514055.1   p.Val389=
XP_011514055.1   p.Val389Met
XP_011514056.1   p.Val389=
XP_011514056.1   p.Val389Met
XP_016867188.1   p.Val389=
XP_016867188.1   p.Val389Met
Clinical Significance: other

rs2146881

Strand:    Allele origin:   Allele change: A/G/T   Mutation type: snp

CM000675.2   g.46105463T>A
CM000675.2   g.46105463T>C
NC_000013.10   g.46679598T>C
NC_000013.11   g.46105463T>A
NC_000013.11   g.46105463T>C
NG_032893.1   g.4614A>G
NG_032893.1   g.4614A>T
NM_001278541.1   c.-454A>G
NM_001278541.1   c.-454A>T
NM_001872.4   c.-454A>G
NM_001872.4   c.-454A>T
rs2157719

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22033367C>T
NC_000009.11   g.22033366C>T
NC_000009.12   g.22033367C>T
NR_003529.3   n.846+381C>T
NR_047532.1   n.533+3773C>T
NR_047533.1   n.372-13384C>T
NR_047534.1   n.372-13384C>T
NR_047535.1   n.372-13384C>T
NR_047536.1   n.372-13384C>T
NR_047537.1   n.372-13384C>T
NR_047538.1   n.372-13384C>T
NR_047539.1   n.846+381C>T
NR_047540.1   n.372-13384C>T
NR_047541.1   n.372-13384C>T
NR_047542.1   n.372-13384C>T
NR_047543.1   n.372-13384C>T
NR_120536.1   n.372-13384C>T
rs2227983

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/C/G/T   Mutation type: snp

CM000669.2   g.55161562G>A
NC_000007.13   g.55229255G>A
NC_000007.14   g.55161562G>A
NG_007726.3   g.147531G>A
NM_001346897.1   c.1427G>A
NM_001346898.1   c.1562G>A
NM_001346899.1   c.1427G>A
NM_001346900.1   c.1403G>A
NM_001346941.1   c.761G>A
NM_005228.3   c.1562G>A
NM_005228.4   c.1562G>A
NM_201282.1   c.1562G>A
NM_201284.1   c.1562G>A
NP_001333826.1   p.Arg476Lys
NP_001333827.1   p.Arg521Lys
NP_001333828.1   p.Arg476Lys
NP_001333829.1   p.Arg468Lys
NP_001333870.1   p.Arg254Lys
NP_005219.2   p.Arg521Lys
NP_958439.1   p.Arg521Lys
NP_958441.1   p.Arg521Lys
XP_005271803.1   p.Arg476Lys
XP_005271804.1   p.Arg468Lys
XP_005271805.1   p.Arg521Lys
Clinical Significance: Likely benign

rs2229150

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000677.2   g.74722821G>A
NC_000015.10   g.74722821G>A
NC_000015.9   g.75015162G>A
NG_008431.2   g.5280G>A
NM_000499.4   c.277C>T
NM_001319216.1   c.277C>T
NM_001319217.1   c.277C>T
NP_000490.1   p.Arg93Trp
NP_001306145.1   p.Arg93Trp
NP_001306146.1   p.Arg93Trp
XP_005254242.1   p.Arg93Trp
XP_005254243.1   p.Arg93Trp
XP_005254244.1   p.Arg93Trp
XP_005254245.1   p.Arg93Trp
XP_016877442.1   p.Arg93Trp
rs2240776

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000672.2   g.117548013T>A
CM000672.2   g.117548013T>G
NC_000010.10   g.119307524T>A
NC_000010.11   g.117548013T>A
NC_000010.11   g.117548013T>G
NG_013009.1   g.10569T>A
NG_013009.1   g.10569T>G
NM_001165924.1   c.407-52T>A
NM_001165924.1   c.407-52T>G
NM_004098.3   c.592-52T>A
NM_004098.3   c.592-52T>G
rs2278970

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000677.2   g.74720640G>A
CM000677.2   g.74720640G>C
NC_000015.10   g.74720640G>A
NC_000015.10   g.74720640G>C
NC_000015.9   g.75012981G>A
NC_000015.9   g.75012981G>C
NG_008431.2   g.3099G>A
NG_008431.2   g.3099G>C
NM_000499.4   c.1388C>G
NM_000499.4   c.1388C>T
NM_001319216.1   c.1301C>G
NM_001319216.1   c.1301C>T
NM_001319217.1   c.1388C>G
NM_001319217.1   c.1388C>T
NP_000490.1   p.Ala463Gly
NP_000490.1   p.Ala463Val
NP_001306145.1   p.Ala434Gly
NP_001306145.1   p.Ala434Val
NP_001306146.1   p.Ala463Gly
NP_001306146.1   p.Ala463Val
XP_005254242.1   p.Ala463Gly
XP_005254242.1   p.Ala463Val
XP_005254243.1   p.Ala463Gly
XP_005254243.1   p.Ala463Val
XP_005254244.1   p.Ala435Gly
XP_005254244.1   p.Ala435Val
XP_005254245.1   p.Ala434Gly
XP_005254245.1   p.Ala434Val
XP_005254246.1   p.Ala202Gly
XP_005254246.1   p.Ala202Val
XP_016877442.1   p.Ala435Gly
XP_016877442.1   p.Ala435Val
rs2282883

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000669.2   g.17316723T>C
CM000669.2   g.17316723T>G
NC_000007.13   g.17356347T>C
NC_000007.14   g.17316723T>C
NC_000007.14   g.17316723T>G
NM_001621.4   c.254-5778T>C
NM_001621.4   c.254-5778T>G
rs2285053

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000678.2   g.55478465C>T
NC_000016.10   g.55478465C>T
NC_000016.9   g.55512377C>T
NG_008989.1   g.4297C>T
NM_001302508.1   c.-576C>T
NM_001302510.1   c.-1666C>T
NM_004530.5   c.-1015C>T
rs2286629

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000672.2   g.117542183T>G
NC_000010.10   g.119301694T>G
NC_000010.11   g.117542183T>G
NG_013009.1   g.4739T>G
NM_001165924.1   c.-1085T>G
NM_004098.3   c.-1085T>G
NR_002791.2   n.574+2123A>C
NR_144378.1   n.407A>C
rs2304462

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000677.2   g.51215770C>A
CM000677.2   g.51215770C>T
NC_000015.10   g.51215770C>A
NC_000015.10   g.51215770C>T
NC_000015.9   g.51507967C>T
NG_007982.1   g.127829G>A
NG_007982.1   g.127829G>T
NM_000103.3   c.791G>A
NM_000103.3   c.791G>T
NM_001347248.1   c.791G>A
NM_001347248.1   c.791G>T
NM_001347249.1   c.791G>A
NM_001347249.1   c.791G>T
NM_001347250.1   c.791G>A
NM_001347250.1   c.791G>T
NM_001347251.1   c.791G>A
NM_001347251.1   c.791G>T
NM_001347252.1   c.791G>A
NM_001347252.1   c.791G>T
NM_001347253.1   c.791G>A
NM_001347253.1   c.791G>T
NM_001347254.1   c.791G>A
NM_001347254.1   c.791G>T
NM_001347255.1   c.791G>A
NM_001347255.1   c.791G>T
NM_001347256.1   c.791G>A
NM_001347256.1   c.791G>T
NM_031226.2   c.791G>A
NM_031226.2   c.791G>T
NP_000094.2   p.Arg264His
NP_000094.2   p.Arg264Leu
NP_001334177.1   p.Arg264His
NP_001334177.1   p.Arg264Leu
NP_001334178.1   p.Arg264His
NP_001334178.1   p.Arg264Leu
NP_001334179.1   p.Arg264His
NP_001334179.1   p.Arg264Leu
NP_001334180.1   p.Arg264His
NP_001334180.1   p.Arg264Leu
NP_001334181.1   p.Arg264His
NP_001334181.1   p.Arg264Leu
NP_001334182.1   p.Arg264His
NP_001334182.1   p.Arg264Leu
NP_001334183.1   p.Arg264His
NP_001334183.1   p.Arg264Leu
NP_001334184.1   p.Arg264His
NP_001334184.1   p.Arg264Leu
NP_001334185.1   p.Arg264His
NP_001334185.1   p.Arg264Leu
NP_112503.1   p.Arg264His
NP_112503.1   p.Arg264Leu
NR_146310.1   n.195-62213C>A
NR_146310.1   n.195-62213C>T
XP_005254247.1   p.Arg264His
XP_005254248.1   p.Arg264His
XP_005254248.1   p.Arg264Leu
XP_005254249.1   p.Arg205His
rs2383206

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22115027A>G
NC_000009.11   g.22115026A>G
NC_000009.12   g.22115027A>G
NR_003529.3   n.2908+1228A>G
NR_047532.1   n.1697+1228A>G
NR_047534.1   n.961+1228A>G
NR_047535.1   n.856+2632A>G
NR_047536.1   n.720+2632A>G
NR_047537.1   n.781-5173A>G
NR_047538.1   n.645-5173A>G
NR_047543.1   n.990+1228A>G
NR_120536.1   n.645-5477A>G
rs243847

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000678.2   g.55490086T>C
NC_000016.10   g.55490086T>C
NC_000016.9   g.55523998T>C
NG_008989.1   g.15918T>C
NM_001127891.2   c.1030+262T>C
NM_001302508.1   c.952+262T>C
NM_001302509.1   c.952+262T>C
NM_001302510.1   c.952+262T>C
NM_004530.5   c.1180+262T>C
rs243865

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000678.2   g.55477894C>T
NC_000016.10   g.55477894C>T
NC_000016.9   g.55511806C>T
NG_008989.1   g.3726C>T
NM_001302508.1   c.-1147C>T
NM_004530.5   c.-1586C>T
Clinical Significance: other

rs2228570

Strand: -   Allele origin: unknown  Allele change: A/C/G/T   Mutation type: snp

  
NC_000012.11   g.48272895A>G
NG_008731.1   g.30920T>C
NC_000012.12   g.47879112A>G
NM_000376.2   c.2T>C
NM_001017535.1   c.2T>C
NM_001017536.1   c.152T>C
NP_000367.1   p.Met1Thr
NP_001017536.1   p.Met51Thr
NP_001017535.1   p.Met1Thr
XM_006719587.3   c.2T>C
XM_011538720.2   c.
Clinical Significance: Benign

rs2235529

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

NC_000001.10   g.22450487C>T
NC_000001.11   g.22123994C>T
NG_008974.1   g.24033G>A
NM_030761.4   c.314-2418G>A
XM_005245897.1   c.149-2418G>A
XM_005245898.1   c.149-2418G>A
XM_011541597.2   c.380-2418G>A
XM_011541598.2   c.149-2418G>A
rs2236722

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000015.10   g.51242798A>G
NC_000015.9   g.51534995A>G
NG_007982.1   g.100801T>C
NM_000103.3   c.115T>C
NM_001347248.1   c.115T>C
NM_001347253.1   c.115T>C
NM_001347254.1   c.115T>C
NM_001347255.1   c.115T>C
NM_001347256.1   c.115T>C
NM_001347249.1   c.115T>C
NM_001347250.  
Clinical Significance: Likely benign

rs2856833

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000677.2   g.74721222G>A
CM000677.2   g.74721222G>T
NC_000015.10   g.74721222G>A
NC_000015.10   g.74721222G>T
NC_000015.9   g.75013563G>A
NC_000015.9   g.75013563G>T
NG_008431.2   g.3681G>A
NG_008431.2   g.3681G>T
NM_000499.4   c.1143C>A
NM_000499.4   c.1143C>T
NM_001319216.1   c.1143C>A
NM_001319216.1   c.1143C>T
NM_001319217.1   c.1143C>A
NM_001319217.1   c.1143C>T
NP_000490.1   p.Phe381=
NP_000490.1   p.Phe381Leu
NP_001306145.1   p.Phe381=
NP_001306145.1   p.Phe381Leu
NP_001306146.1   p.Phe381=
NP_001306146.1   p.Phe381Leu
XP_005254242.1   p.Phe381=
XP_005254242.1   p.Phe381Leu
XP_005254243.1   p.Phe381=
XP_005254243.1   p.Phe381Leu
XP_005254244.1   p.Phe353=
XP_005254244.1   p.Phe353Leu
XP_005254245.1   p.Phe381=
XP_005254245.1   p.Phe381Leu
XP_005254246.1   p.Phe120=
XP_005254246.1   p.Phe120Leu
XP_016877442.1   p.Phe353=
XP_016877442.1   p.Phe353Leu
rs2283265

Strand: -   Allele origin: unknown  Allele change: G/T   Mutation type: snp

NC_000011.9   g.113285536C>A
NC_000011.10   g.113414814C>A
NG_008841.1   g.65466G>T
NM_000795.3   c.724-353G>T
NM_016574.3   c.723+607G>T
XM_005271425.1   c.724-353G>T
XM_005271426.1   c.721-353G>T
XM_017017296.1   c.724-353G>T
rs2899470

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000677.2   g.51211480T>G
NC_000015.10   g.51211480T>G
NC_000015.9   g.51503677T>G
NG_007982.1   g.132119A>C
NM_000103.3   c.1264-424A>C
NM_001347248.1   c.1264-424A>C
NM_001347249.1   c.1264-424A>C
NM_001347250.1   c.1264-424A>C
NM_001347251.1   c.1264-424A>C
NM_001347252.1   c.1264-424A>C
NM_001347253.1   c.1264-424A>C
NM_001347254.1   c.1264-424A>C
NM_001347255.1   c.1264-424A>C
NM_001347256.1   c.1264-424A>C
NM_031226.2   c.1264-424A>C
NR_146310.1   n.195-66503T>G
rs3093661

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.31575981G>A
NC_000006.11   g.31543758G>A
NC_000006.12   g.31575981G>A
NG_007462.1   g.5409G>A
NG_012010.1   g.8883G>A
NM_000594.3   c.186+54G>A
NT_113891.2   g.3053374G>A
NT_113891.3   g.3053268G>A
NT_167244.1   g.2858476G>A
NT_167244.2   g.2908560G>A
NT_167245.1   g.2829299A=
NT_167245.1   g.2829299A>G
NT_167245.2   g.2823714A=
NT_167245.2   g.2823714A>G
NT_167246.1   g.2886642G>A
NT_167246.2   g.2881022G>A
NT_167247.1   g.2923464G>A
NT_167247.2   g.2917879G>A
NT_167248.1   g.2837396G>A
NT_167248.2   g.2831800G>A
NT_167249.1   g.2874559G>A
NT_167249.2   g.2875261G>A
rs3093662

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.31576412A>G
NC_000006.11   g.31544189A>G
NC_000006.12   g.31576412A>G
NG_007462.1   g.5840A>G
NM_000594.3   c.187-122A>G
NT_113891.2   g.3053805A>G
NT_113891.3   g.3053699A>G
NT_167244.1   g.2858907A>G
NT_167244.2   g.2908991A>G
NT_167245.1   g.2829730G=
NT_167245.1   g.2829730G>A
NT_167245.2   g.2824145G=
NT_167245.2   g.2824145G>A
NT_167246.1   g.2887073A>G
NT_167246.2   g.2881453A>G
NT_167247.1   g.2923895A>G
NT_167247.2   g.2918310A>G
NT_167248.1   g.2837829G=
NT_167248.1   g.2837829G>A
NT_167248.2   g.2832233G=
NT_167248.2   g.2832233G>A
NT_167249.1   g.2874990A>G
NT_167249.2   g.2875692A>G
rs3093664

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.31576865A>G
NC_000006.11   g.31544642A>G
NC_000006.12   g.31576865A>G
NG_007462.1   g.6293A>G
NM_000594.3   c.280+51A>G
NT_113891.2   g.3054258A>G
NT_113891.3   g.3054152A>G
NT_167244.1   g.2859360A>G
NT_167244.2   g.2909444A>G
NT_167245.1   g.2830183G=
NT_167245.1   g.2830183G>A
NT_167245.2   g.2824598G=
NT_167245.2   g.2824598G>A
NT_167246.1   g.2887526A>G
NT_167246.2   g.2881906A>G
NT_167247.1   g.2924348A>G
NT_167247.2   g.2918763A>G
NT_167248.1   g.2838282A>G
NT_167248.2   g.2832686A>G
NT_167249.1   g.2875443A>G
NT_167249.2   g.2876145A>G
rs361525

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.31575324G>A
NC_000006.11   g.31543101G>A
NC_000006.12   g.31575324G>A
NG_007462.1   g.4752G>A
NG_012010.1   g.8226G>A
NM_000594.3   c.-418G>A
NT_113891.2   g.3052717G>A
NT_113891.3   g.3052611G>A
NT_167245.1   g.2828642A=
NT_167245.1   g.2828642A>G
NT_167245.2   g.2823057A=
NT_167245.2   g.2823057A>G
NT_167246.1   g.2885985G>A
NT_167246.2   g.2880365G>A
NT_167247.1   g.2922807G>A
NT_167247.2   g.2917222G>A
NT_167248.1   g.2836739A=
NT_167248.1   g.2836739A>G
NT_167248.2   g.2831143A=
NT_167248.2   g.2831143A>G
NT_167249.1   g.2873902G>A
NT_167249.2   g.2874604G>A
rs365446

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000672.2   g.117544804G>C
NC_000010.10   g.119304315G>C
NC_000010.11   g.117544804G>C
NG_013009.1   g.7360G>C
NM_001165924.1   c.406+1131G>C
NM_004098.3   c.407-828G>C
NR_002791.2   n.265C>G
rs3731197

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.21991372C>T
NC_000009.11   g.21991371C>T
NC_000009.12   g.21991372C>T
NG_007485.1   g.8120G>A
NM_058195.3   c.193+2767G>A
XR_242496.1   n.347+2767G>A
rs3826042

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000677.2   g.74726564C>T
NC_000015.10   g.74726564C>T
NC_000015.9   g.75018905C>T
NG_008431.2   g.9023C>T
NG_055242.1   g.2870C>T
NM_000499.4   c.-1150G>A
NM_001319216.1   c.-1153G>A
NM_001319217.1   c.-1153G>A
rs385209

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000672.2   g.117544545T>C
CM000672.2   g.117544545T>G
NC_000010.10   g.119304056T>C
NC_000010.11   g.117544545T>C
NC_000010.11   g.117544545T>G
NG_013009.1   g.7101T>C
NG_013009.1   g.7101T>G
NM_001165924.1   c.406+872T>C
NM_001165924.1   c.406+872T>G
NM_004098.3   c.406+872T>C
NM_004098.3   c.406+872T>G
NR_002791.2   n.503+21A>C
NR_002791.2   n.503+21A>G
NR_144378.1   n.-1956A>C
NR_144378.1   n.-1956A>G
rs3918242

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000682.2   g.46007337C>T
NC_000020.10   g.44635976C>T
NC_000020.11   g.46007337C>T
NG_011468.1   g.3430C>T
NM_004994.2   c.-1590C>T
rs3761959

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

  
NC_000001.10   g.157669278C>T
NC_000001.11   g.157699488C>T
NG_023241.1   g.6370G>A
NM_001320333.1   c.52+204G>A
NM_052939.3   c.52+204G>A
NR_135217.1   n.359+204G>A
NR_135216.1   n.359+204G>A
NR_135215.1   n.359+204G>A
NR_135214.1   n.359+204G>A
XM_005244872.1   c.52+204G>
rs4244285

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/C/G   Mutation type: snp

CM000672.2   g.94781859G>A
NC_000010.10   g.96541616G>A
NC_000010.11   g.94781859G>A
NG_008384.2   g.24154G>A
NM_000769.1   c.681G>A
NM_000769.2   c.681G>A
NP_000760.1   p.Pro227=
Clinical Significance: drug-response

rs4291

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000679.2   g.63476833T>A
CM000679.2   g.63476833T>C
NC_000017.10   g.61554194T>A
NC_000017.11   g.63476833T>A
NC_000017.11   g.63476833T>C
NG_011648.1   g.4761T>A
NG_011648.1   g.4761T>C
NM_000789.3   c.-262T>A
NM_000789.3   c.-262T>C
rs4343

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000679.2   g.63488670G>A
NC_000017.10   g.61566031G>A
NC_000017.11   g.63488670G>A
NG_011648.1   g.16598G>A
NM_000789.3   c.2328G>A
NM_001178057.1   c.606G>A
NM_152830.2   c.606G>A
NP_000780.1   p.Thr776=
NP_001171528.1   p.Thr202=
NP_690043.1   p.Thr202=
XP_005257167.1   p.Thr593=
XP_006721800.2   p.Thr222=
Clinical Significance: Benign

rs4398252

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000664.2   g.38071240T>A
CM000664.2   g.38071240T>C
NC_000002.11   g.38298383T>A
NC_000002.11   g.38298383T>C
NC_000002.12   g.38071240T>A
NC_000002.12   g.38071240T>C
NG_008386.2   g.9862A>G
NG_008386.2   g.9862A>T
NM_000104.3   c.1114A>G
NM_000104.3   c.1114A>T
NP_000095.2   p.Met372Leu
NP_000095.2   p.Met372Val
rs3820282

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

NC_000001.11   g.22141722C>T
NC_000001.10   g.22468215C>T
NG_008974.1   g.6305G>A
NM_030761.4   c.77+1124G>A
XM_005245897.1   c.-1617G>A
XM_005245898.1   c.-89+2010G>A
XM_011541598.2   c.-89+2010G>A
XM_011541599.1   c.-922G>A
XM_011541597.2   c.-922G>A
XR_001737923.1   n.-12
rs4645843

Strand:    Allele origin:   Allele change: C/G/T   Mutation type: snp

CM000668.2   g.31576785C>G
CM000668.2   g.31576785C>T
NC_000006.11   g.31544562C>T
NC_000006.12   g.31576785C>G
NC_000006.12   g.31576785C>T
NG_007462.1   g.6213C>G
NG_007462.1   g.6213C>T
NM_000594.3   c.251C>G
NM_000594.3   c.251C>T
NP_000585.2   p.Pro84Arg
NP_000585.2   p.Pro84Leu
NT_113891.2   g.3054178C>T
NT_113891.3   g.3054072C>G
NT_113891.3   g.3054072C>T
NT_167244.1   g.2859280C>T
NT_167244.2   g.2909364C>G
NT_167244.2   g.2909364C>T
NT_167245.1   g.2830103C>T
NT_167245.2   g.2824518C>G
NT_167245.2   g.2824518C>T
NT_167246.1   g.2887446C>T
NT_167246.2   g.2881826C>G
NT_167246.2   g.2881826C>T
NT_167247.1   g.2924268C>T
NT_167247.2   g.2918683C>G
NT_167247.2   g.2918683C>T
NT_167248.1   g.2838202C>T
NT_167248.2   g.2832606C>G
NT_167248.2   g.2832606C>T
NT_167249.1   g.2875363C>T
NT_167249.2   g.2876065C>G
NT_167249.2   g.2876065C>T
rs4245146

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

  
NC_000011.9   g.113317973T>C
NC_000011.10   g.113447251T>C
NG_008841.1   g.33029A>G
NM_000795.3   c.-31-22569A>G
NM_016574.3   c.-31-22569A>G
XM_005271425.1   c.-31-22569A>G
XM_017017296.1   c.-31-22569A>G
rs4646422

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000677.2   g.74722964C>T
NC_000015.10   g.74722964C>T
NC_000015.9   g.75015305C>T
NG_008431.2   g.5423C>T
NM_000499.4   c.134G>A
NM_001319216.1   c.134G>A
NM_001319217.1   c.134G>A
NP_000490.1   p.Gly45Asp
NP_001306145.1   p.Gly45Asp
NP_001306146.1   p.Gly45Asp
XP_005254242.1   p.Gly45Asp
XP_005254243.1   p.Gly45Asp
XP_005254244.1   p.Gly45Asp
XP_005254245.1   p.Gly45Asp
XP_016877442.1   p.Gly45Asp
rs4646903

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000677.2   g.74719300A>G
NC_000015.10   g.74719300A>G
NC_000015.9   g.75011641A>G
NC_000015.9   g.75011641A>T
NG_008431.2   g.1759A>G
NG_008431.2   g.1759A>T
NM_000499.4   c.*1189T>A
NM_000499.4   c.*1189T>C
NM_000499.4   c.*947+242T>C
NM_001319216.1   c.*1189T>A
NM_001319216.1   c.*1189T>C
NM_001319216.1   c.*947+242T>C
NM_001319217.1   c.*1189T>A
NM_001319217.1   c.*1189T>C
NM_001319217.1   c.*947+242T>C
rs4680

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/G   Mutation type: snp

CM000684.2   g.19963748G>A
NC_000022.10   g.19951271G>A
NC_000022.11   g.19963748G>A
NG_011526.1   g.27009G>A
NM_000754.3   c.472G>A
NM_001135161.1   c.472G>A
NM_001135162.1   c.472G>A
NM_007310.2   c.322G>A
NP_000745.1   p.Val158Met
NP_001128633.1   p.Val158Met
NP_001128634.1   p.Val158Met
NP_009294.1   p.Val108Met
NR_039918.1   n.-5G>A
XP_005261286.1   p.Val158Met
XP_011528188.1   p.Val196Met
XP_016884083.1   p.Val158Met
XP_016884084.1   p.Val158Met
Clinical Significance: drug-response

rs4917

Strand:    Allele origin: T(germline)/C(germline)  Allele change: C/T   Mutation type: snp

CM000665.2   g.186619924T>C
NC_000003.11   g.186337713T>C
NC_000003.12   g.186619924T>C
NG_011436.1   g.11864T>C
NM_001354571.1   c.746T>C
NM_001354572.1   c.740T>C
NM_001354573.1   c.676-662T>C
NM_001622.2   c.743T>C
NM_001622.3   c.743T>C
NP_001341500.1   p.Met249Thr
NP_001341501.1   p.Met247Thr
NP_001613.2   p.Met248Thr
Clinical Significance: other

rs4648317

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000011.10   g.113460810G>A
NC_000011.9   g.113331532G>A
NG_008841.1   g.19470C>T
NM_000795.3   c.-32+14266C>T
NM_016574.3   c.-32+14266C>T
XM_005271425.1   c.-32+14848C>T
XM_017017296.1   c.-32+13420C>T
rs4729645

Strand: +   Allele origin: unknown  Allele change: A/C/T   Mutation type: snp

  
XR_242223.1   n.1069C>A
XR_242223.1   n.1069C>T
NP_001035194.1   p.Thr339Lys
NP_001035194.1   p.Thr339Met
NR_133665.1   n.1069C>A
NR_133665.1   n.1069C>T
NG_050729.1   g.17357C>A
NG_050729.1   g.17357C>T
NM_001040105.1   c.1016C>A
NM_001040105.1   c.1016C>T
NC_000007.14   g.1
rs4729655

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000007.13   g.100701451T>C
NC_000007.14   g.101058170T>C
NM_001040105.1   c.*126T>C
NG_050729.1   g.43095T>C
NR_133665.1   n.13509T>C
XR_242223.1   n.13509T>C
rs4729656

Strand: +   Allele origin: unknown  Allele change: A/G/T   Mutation type: snp

NC_000007.14   g.101058329T>A
NC_000007.14   g.101058329T>G
NC_000007.13   g.100701610T>A
NG_050729.1   g.43254T>A
NG_050729.1   g.43254T>G
NG_046390.1   g.131T>A
NG_046390.1   g.131T>G
NM_001040105.1   c.*285T>A
NM_001040105.1   c.*285T>G
NR_133665.1   n.13668T>A
NR_133665.  
rs4918

Strand:    Allele origin: G(germline)/C(germline)  Allele change: A/C/G   Mutation type: snp

CM000665.2   g.186620593G>A
CM000665.2   g.186620593G>C
NC_000003.11   g.186338382G>C
NC_000003.12   g.186620593G>A
NC_000003.12   g.186620593G>C
NG_011436.1   g.12533G>A
NG_011436.1   g.12533G>C
NM_001354571.1   c.770G>A
NM_001354571.1   c.770G>C
NM_001354572.1   c.764G>A
NM_001354572.1   c.764G>C
NM_001354573.1   c.683G>A
NM_001354573.1   c.683G>C
NM_001622.2   c.767G>C
NM_001622.3   c.767G>A
NM_001622.3   c.767G>C
NP_001341500.1   p.Ser257Asn
NP_001341500.1   p.Ser257Thr
NP_001341501.1   p.Ser255Asn
NP_001341501.1   p.Ser255Thr
NP_001341502.1   p.Ser228Asn
NP_001341502.1   p.Ser228Thr
NP_001613.2   p.Ser256Asn
NP_001613.2   p.Ser256Thr
XP_016861329.1   p.Ser228Asn
XP_016861329.1   p.Ser228Thr
Clinical Significance: other

rs4957014

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000667.2   g.287899T>G
NC_000005.10   g.287899T>G
NC_000005.9   g.288014T>G
NM_001267556.1   c.163+15127T>G
NM_001267557.1   c.163+15127T>G
NM_001267558.1   c.-48+15127T>G
NM_001267559.1   c.163+15127T>G
NM_013232.3   c.163+15127T>G
rs4986938

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

NG_011535.1   g.110453G>A
NC_000014.9   g.64233098C>T
NC_000014.8   g.64699816C>T
NM_001040275.1   c.1406+1872G>A
NM_001214902.1   c.1406+1872G>A
NM_001271876.1   c.1406+1872G>A
NM_001271877.1   c.*39G>A
NM_001291723.1   c.1406+1872G>A
NM_001291712.1   c.1406+1872G>A
NM_00  
rs4977756

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22068653G>A
NC_000009.11   g.22068652G>A
NC_000009.12   g.22068653G>A
NR_003529.3   n.2448+2300G>A
NR_047532.1   n.1075+12266G>A
NR_047533.1   n.645-9026G>A
NR_047534.1   n.644+19425G>A
NR_047535.1   n.780+12266G>A
NR_047536.1   n.644+19425G>A
NR_047537.1   n.780+12266G>A
NR_047538.1   n.644+19425G>A
NR_047539.1   n.2448+2300G>A
NR_047540.1   n.1048+2300G>A
NR_047541.1   n.855+4635G>A
NR_047542.1   n.781-9026G>A
NR_047543.1   n.780+12266G>A
NR_120536.1   n.644+19425G>A
rs7528684

Strand: +   Allele origin: unknown  Allele change: A/G   Mutation type: snp

  
NC_000001.10   g.157670816A>G
NC_000001.11   g.157701026A>G
NG_023241.1   g.4832T>C
NM_001320333.1   c.-461T>C
NM_052939.3   c.-461T>C
NR_135216.1   n.-154T>C
NR_135215.1   n.-154T>C
NR_135217.1   n.-154T>C
NR_135214.1   n.-154T>C
XM_005244871.1   c.-263T>C
XM_005244872.1   c
rs4986887

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000664.2   g.38071033C>G
NC_000002.11   g.38298176C>G
NC_000002.12   g.38071033C>G
NG_008386.2   g.10069G>C
NM_000104.3   c.1321G>C
NP_000095.2   p.Asp441His
rs4986888

Strand:    Allele origin:   Allele change: C/G/T   Mutation type: snp

CM000664.2   g.38071026G>A
CM000664.2   g.38071026G>C
NC_000002.11   g.38298169G>C
NC_000002.12   g.38071026G>A
NC_000002.12   g.38071026G>C
NG_008386.2   g.10076C>G
NG_008386.2   g.10076C>T
NM_000104.3   c.1328C>G
NM_000104.3   c.1328C>T
NP_000095.2   p.Ala443Gly
NP_000095.2   p.Ala443Val
Clinical Significance: Benign

rs4987133

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000677.2   g.74721686A>G
NC_000015.10   g.74721686A>G
NC_000015.9   g.75014027A>G
NG_008431.2   g.4145A>G
NM_000499.4   c.857T>C
NM_001319216.1   c.857T>C
NM_001319217.1   c.857T>C
NP_000490.1   p.Ile286Thr
NP_001306145.1   p.Ile286Thr
NP_001306146.1   p.Ile286Thr
XP_005254242.1   p.Ile286Thr
XP_005254243.1   p.Ile286Thr
XP_005254244.1   p.Ile258Thr
XP_005254245.1   p.Ile286Thr
XP_005254246.1   p.Ile25Thr
XP_016877442.1   p.Ile258Thr
rs500760

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000673.2   g.101039260T>C
NC_000011.10   g.101039260T>C
NC_000011.9   g.100909991T>C
NG_016475.1   g.95554A>G
NM_000926.4   c.2658A>G
NM_001202474.3   c.2166A>G
NM_001271161.2   c.1860A>G
NM_001271162.1   c.876A>G
NP_000917.3   p.Gln886=
NP_001189403.1   p.Gln722=
NP_001258090.1   p.Gln620=
NP_001258091.1   p.Gln292=
NR_073141.2   n.2599A>G
NR_073142.2   n.2482A>G
NR_073143.2   n.2214A>G
rs5186

Strand:    Allele origin: A(germline)/C(germline)  Allele change: A/C   Mutation type: snp

CM000665.2   g.148742201A>C
NC_000003.11   g.148459988A>C
NC_000003.12   g.148742201A>C
NG_008468.1   g.49331A>C
NM_000685.4   c.*86A>C
NM_004835.4   c.*86A>C
NM_009585.3   c.*86A>C
NM_031850.3   c.*86A>C
NM_032049.3   c.*86A>C
Clinical Significance: other

rs5370

Strand:    Allele origin: G(germline)/T(germline)  Allele change: G/T   Mutation type: snp

CM000668.2   g.12296022G>T
NC_000006.11   g.12296255G>T
NC_000006.12   g.12296022G>T
NG_016196.1   g.10727G>T
NM_001168319.1   c.591G>T
NM_001955.4   c.594G>T
NP_001161791.1   p.Lys197Asn
NP_001946.3   p.Lys198Asn
XP_011512632.1   p.Lys198Asn
XP_011512633.1   p.Lys198Asn
XP_011512634.1   p.Lys197Asn
XP_016865820.1   p.Lys198Asn
XR_241977.1   n.971C>A
Clinical Significance: other

rs6267

Strand:    Allele origin: G(germline)/T(germline)  Allele change: A/G/T   Mutation type: snp

CM000684.2   g.19962740G>A
CM000684.2   g.19962740G>T
NC_000022.10   g.19950263G>A
NC_000022.10   g.19950263G>T
NC_000022.11   g.19962740G>A
NC_000022.11   g.19962740G>T
NG_011526.1   g.26001G>A
NG_011526.1   g.26001G>T
NM_000754.3   c.214G>A
NM_000754.3   c.214G>T
NM_001135161.1   c.214G>A
NM_001135161.1   c.214G>T
NM_001135162.1   c.214G>A
NM_001135162.1   c.214G>T
NM_007310.2   c.64G>A
NM_007310.2   c.64G>T
NP_000745.1   p.Ala72Ser
NP_000745.1   p.Ala72Thr
NP_001128633.1   p.Ala72Ser
NP_001128633.1   p.Ala72Thr
NP_001128634.1   p.Ala72Ser
NP_001128634.1   p.Ala72Thr
NP_009294.1   p.Ala22Ser
NP_009294.1   p.Ala22Thr
NR_039918.1   n.-1013G>A
NR_039918.1   n.-1013G>T
XP_005261286.1   p.Ala72Ser
XP_005261286.1   p.Ala72Thr
XP_011528188.1   p.Ala110Ser
XP_011528188.1   p.Ala110Thr
XP_016884083.1   p.Ala72Ser
XP_016884083.1   p.Ala72Thr
XP_016884084.1   p.Ala72Ser
XP_016884084.1   p.Ala72Thr
Clinical Significance: other

rs6475606

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.22081851C>T
NC_000009.11   g.22081850C>T
NC_000009.12   g.22081851C>T
NR_003529.3   n.2449-14521C>T
NR_047532.1   n.1076-10457C>T
NR_047534.1   n.645-15407C>T
NR_047535.1   n.780+25464C>T
NR_047536.1   n.645-30469C>T
NR_047537.1   n.780+25464C>T
NR_047538.1   n.644+32623C>T
NR_047543.1   n.780+25464C>T
NR_120536.1   n.644+32623C>T
rs680

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000673.2   g.2132404T>C
NC_000011.10   g.2132404T>C
NC_000011.9   g.2153634T>C
NC_000011.9   g.2153634T>G
NG_008849.1   g.22200A>C
NG_008849.1   g.22200A>G
NG_050578.1   g.33806A>C
NG_050578.1   g.33806A>G
NM_000612.5   c.*583A>C
NM_000612.5   c.*583A>G
NM_001007139.5   c.*583A>C
NM_001007139.5   c.*583A>G
NM_001127598.2   c.*583A>C
NM_001127598.2   c.*583A>G
NM_001291861.2   c.*583A>C
NM_001291861.2   c.*583A>G
NM_001291862.2   c.*583A>C
NM_001291862.2   c.*583A>G
NR_003512.3   n.1840A>C
NR_003512.3   n.1840A>G
rs700519

Strand:    Allele origin: T(germline)/C(germline)  Allele change: C/T   Mutation type: snp

CM000677.2   g.51215771G>A
NC_000015.10   g.51215771G>A
NC_000015.9   g.51507968G>A
NG_007982.1   g.127828C>T
NM_000103.3   c.790C>T
NM_001347248.1   c.790C>T
NM_001347249.1   c.790C>T
NM_001347250.1   c.790C>T
NM_001347251.1   c.790C>T
NM_001347252.1   c.790C>T
NM_001347253.1   c.790C>T
NM_001347254.1   c.790C>T
NM_001347255.1   c.790C>T
NM_001347256.1   c.790C>T
NM_031226.2   c.790C>T
NP_000094.2   p.Arg264Cys
NP_001334177.1   p.Arg264Cys
NP_001334178.1   p.Arg264Cys
NP_001334179.1   p.Arg264Cys
NP_001334180.1   p.Arg264Cys
NP_001334181.1   p.Arg264Cys
NP_001334182.1   p.Arg264Cys
NP_001334183.1   p.Arg264Cys
NP_001334184.1   p.Arg264Cys
NP_001334185.1   p.Arg264Cys
NP_112503.1   p.Arg264Cys
NR_146310.1   n.195-62212G>A
XP_005254247.1   p.Arg264Cys
XP_005254248.1   p.Arg264Cys
XP_005254249.1   p.Arg205Cys
Clinical Significance: Likely benign

rs703411

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000672.2   g.117541071C>T
NC_000010.10   g.119300582C>T
NC_000010.11   g.117541071C>T
NG_013009.1   g.3627C>T
NM_001165924.1   c.-2197C>T
NM_004098.3   c.-2197C>T
NR_002791.2   n.574+3235G>A
NR_144378.1   n.493+1026G>A
rs708272

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000678.2   g.56962376G>A
NC_000016.10   g.56962376G>A
NC_000016.9   g.56996288G>A
NG_008952.1   g.5454G>A
NM_000078.2   c.118+279G>A
NM_001286085.1   c.118+279G>A
rs10895068

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

NC_000011.9   g.101000214C>T
NC_000011.10   g.101129483C>T
NM_001271161.2   c.-905G>A
NM_001271162.1   c.-201G>A
NG_016475.1   g.5331G>A
NM_000926.4   c.-413G>A
NM_001202474.3   c.-905G>A
NR_073141.2   n.-420G>A
NR_073142.2   n.-420G>A
NR_073143.2   n.-420G>A
NR_073144.1   n.4
rs10953316

Strand: +   Allele origin: unknown  Allele change: A/C/G   Mutation type: snp

  
XR_242223.1   n.7118A>C
XR_242223.1   n.7118A>G
NR_133665.1   n.7118A>C
NR_133665.1   n.7118A>G
NP_001035194.1   p.Thr2355=
NG_050729.1   g.23406A>C
NG_050729.1   g.23406A>G
NM_001040105.1   c.7065A>C
NM_001040105.1   c.7065A>G
NC_000007.13   g.100681762A>C
NC_000007.13   g.1
rs11592737

Strand: +   Allele origin: unknown  Allele change: A/G   Mutation type: snp

NC_000010.11   g.94843657A>G
NC_000010.10   g.96603414A>G
NG_008384.2   g.85952A>G
NM_000769.1   c.1149+633A>G
NM_000769.2   c.1149+633A>G
rs713150

Strand:    Allele origin:   Allele change: C/G/T   Mutation type: snp

CM000669.2   g.17300533G>C
CM000669.2   g.17300533G>T
NC_000007.13   g.17340157G>C
NC_000007.14   g.17300533G>C
NC_000007.14   g.17300533G>T
NM_001621.4   c.65+1204G>C
NM_001621.4   c.65+1204G>T
XR_242133.1   n.-1415C>G
XR_927073.2   n.-1995C>A
XR_927073.2   n.-1995C>G
rs731236

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000674.2   g.47844974A>G
NC_000012.11   g.48238757A>G
NC_000012.12   g.47844974A>G
NG_008731.1   g.65058T>C
NM_000376.2   c.1056T>C
NM_001017535.1   c.1056T>C
NM_001017536.1   c.1206T>C
NP_000367.1   p.Ile352=
NP_001017535.1   p.Ile352=
NP_001017536.1   p.Ile402=
XP_006719650.1   p.Ile352=
XP_011537022.1   p.Ile352=
Clinical Significance: Likely benign

rs737657

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000672.2   g.98253133A>G
NC_000010.10   g.100012890A>G
NC_000010.11   g.98253133A>G
NM_032211.6   c.1835+420T>C
XR_246174.1   n.487+931A>G
rs740734

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000672.2   g.117547867G>C
NC_000010.10   g.119307378G>C
NC_000010.11   g.117547867G>C
NG_013009.1   g.10423G>C
NM_001165924.1   c.407-198G>C
NM_004098.3   c.592-198G>C
rs758316

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000669.2   g.153934563G>A
NC_000007.13   g.153631648G>A
NC_000007.14   g.153934563G>A
NG_033878.1   g.52230G>A
NM_001039350.2   c.51+46829G>A
rs762551

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000677.2   g.74749576C>A
NC_000015.10   g.74749576C>A
NC_000015.9   g.75041917C>A
NG_008431.2   g.32035C>A
NG_055245.1   g.5246C>A
NM_000761.4   c.-9-154C>A
rs7865618

Strand:    Allele origin:   Allele change: A/G/T   Mutation type: snp

CM000671.2   g.22031006G>A
CM000671.2   g.22031006G>T
NC_000009.11   g.22031005G>A
NC_000009.12   g.22031006G>A
NC_000009.12   g.22031006G>T
NR_003529.3   n.533+1412G>A
NR_003529.3   n.533+1412G>T
NR_047532.1   n.533+1412G>A
NR_047532.1   n.533+1412G>T
NR_047533.1   n.372-15745G>A
NR_047533.1   n.372-15745G>T
NR_047534.1   n.372-15745G>A
NR_047534.1   n.372-15745G>T
NR_047535.1   n.372-15745G>A
NR_047535.1   n.372-15745G>T
NR_047536.1   n.372-15745G>A
NR_047536.1   n.372-15745G>T
NR_047537.1   n.372-15745G>A
NR_047537.1   n.372-15745G>T
NR_047538.1   n.372-15745G>A
NR_047538.1   n.372-15745G>T
NR_047539.1   n.533+1412G>A
NR_047539.1   n.533+1412G>T
NR_047540.1   n.372-15745G>A
NR_047540.1   n.372-15745G>T
NR_047541.1   n.372-15745G>A
NR_047541.1   n.372-15745G>T
NR_047542.1   n.372-15745G>A
NR_047542.1   n.372-15745G>T
NR_047543.1   n.372-15745G>A
NR_047543.1   n.372-15745G>T
NR_120536.1   n.372-15745G>A
NR_120536.1   n.372-15745G>T
rs7975232

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000674.2   g.47845054C>A
NC_000012.11   g.48238837C>A
NC_000012.12   g.47845054C>A
NG_008731.1   g.64978G>T
NM_000376.2   c.1025-49G>T
NM_001017535.1   c.1025-49G>T
NM_001017536.1   c.1175-49G>T
rs8192640

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.117545494C>T
NC_000010.10   g.119305005C>T
NC_000010.11   g.117545494C>T
NG_013009.1   g.8050C>T
NM_001165924.1   c.406+1821C>T
NM_004098.3   c.407-138C>T
NR_002791.2   n.-426G>A
rs855768

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.117547956G>A
NC_000010.10   g.119307467G>A
NC_000010.11   g.117547956G>A
NG_013009.1   g.10512G>A
NM_001165924.1   c.407-109G>A
NM_004098.3   c.592-109G>A
rs855769

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.117544585A>G
NC_000010.10   g.119304096A>G
NC_000010.11   g.117544585A>G
NG_013009.1   g.7141A>G
NM_001165924.1   c.406+912A>G
NM_004098.3   c.406+912A>G
NR_002791.2   n.484T>C
NR_144378.1   n.-1996T>C
rs936307

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000677.2   g.51287778C>A
NC_000015.10   g.51287778C>A
NC_000015.9   g.51579975C>A
NG_007982.1   g.55821G>T
NM_000103.3   c.-38-44828G>T
NM_001347248.1   c.-39+36038G>T
NM_001347249.1   c.-39+30655G>T
NM_001347250.1   c.-39+472G>T
NM_031226.2   c.-39+36038G>T
NR_146310.1   n.263-5836C>A
rs944052

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000676.2   g.64339114G>A
NC_000014.8   g.64805832G>A
NC_000014.9   g.64339114G>A
NG_011535.1   g.4437C>T
NM_001291712.1   c.-2292C>T
NM_001291723.1   c.-1307C>T
NR_073496.1   n.-564C>T
NR_073505.1   n.-564C>T
rs944797

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.22115287T>C
NC_000009.11   g.22115286T>C
NC_000009.11   g.22115286T>G
NC_000009.12   g.22115287T>C
NR_003529.3   n.2908+1488T>C
NR_003529.3   n.2908+1488T>G
NR_047532.1   n.1697+1488T>C
NR_047532.1   n.1697+1488T>G
NR_047534.1   n.961+1488T>C
NR_047534.1   n.961+1488T>G
NR_047535.1   n.856+2892T>C
NR_047535.1   n.856+2892T>G
NR_047536.1   n.720+2892T>C
NR_047536.1   n.720+2892T>G
NR_047537.1   n.781-4913T>C
NR_047537.1   n.781-4913T>G
NR_047538.1   n.645-4913T>C
NR_047538.1   n.645-4913T>G
NR_047543.1   n.990+1488T>C
NR_047543.1   n.990+1488T>G
NR_120536.1   n.645-5217T>C
NR_120536.1   n.645-5217T>G
rs9582036

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000675.2   g.28311271C>A
NC_000013.10   g.28885408C>A
NC_000013.11   g.28311271C>A
NG_012003.1   g.188858G>T
NM_002019.4   c.3635+319G>T
rs74974199

Strand: +   Allele origin: unknown  Allele change: C/G   Mutation type: snp

  
NC_000007.14   g.101043210G>C
NC_000007.13   g.100686491G>C
NM_001040105.1   c.11794G>C
NG_050729.1   g.28135G>C
NR_133665.1   n.11847G>C
NP_001035194.1   p.Gly3932Arg
XR_242223.1   n.11847G>C

Protein Summary
Protein general information P04217  

Name: Alpha 1B glycoprotein (Alpha 1 B glycoprotein)

Length: 495  Mass: 54,254

Tissue specificity: Plasma.

Sequence MSMLVVFLLLWGVTWGPVTEAAIFYETQPSLWAESESLLKPLANVTLTCQAHLETPDFQLFKNGVAQEPVHLDSP
AIKHQFLLTGDTQGRYRCRSGLSTGWTQLSKLLELTGPKSLPAPWLSMAPVSWITPGLKTTAVCRGVLRGVTFLL
RREGDHEFLEVPEAQEDVEATFPVHQPGNYSCSYRTDGEGALSEPSATVTIEELAAPPPPVLMHHGESSQVLHPG
NKVTLTCVAPLSGVDFQLRRGEKELLVPRSSTSPDRIFFHLNAVALGDGGHYTCRYRLHDNQNGWSGDSAPVELI
LSDETLPAPEFSPEPESGRALRLRCLAPLEGARFALVREDRGGRRVHRFQSPAGTEALFELHNISVADSANYSCV
YVDLKPPFGGSAPSERLELHVDGPPPRPQLRATWSGAVLAGRDAVLRCEGPIPDVTFELLREGETKAVKTVRTPG
AAANLELIFVGPQHAGNYRCRYRSWVPHTFESELSDPVELLVAES
Structural information
Protein Domains
 Ig-like (22-113)
Ig-like (114-206)
Ig-like (207-299)
Ig-like (300-397)
Ig-like (398-495)
Interpro:  IPR016332 IPR007110 IPR013783 IPR003599 IPR003598
Prosite:   PS50835

Pfam:  		 PF13895
MINT:   8247347
STRING:   ENSP00000263100;
Other Databases GeneCards:  A1BG;  Malacards:  A1BG

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0002576 platelet degranulation
 TAS biological_process
GO:0003674 molecular_function
 ND molecular_function
GO:0005576 extracellular region
 IDA cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0008150 biological_process
 ND biological_process
GO:0031093 platelet alpha granule lu
men
 TAS cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0072562 blood microparticle
 IDA cellular_component
GO:0002576 platelet degranulation
 TAS biological_process
GO:0003674 molecular_function
 ND molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IDA cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0008150 biological_process
 ND biological_process
GO:0031093 platelet alpha granule lu
men
 TAS cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0072562 blood microparticle
 IDA cellular_component
GO:0002576 platelet degranulation
 TAS biological_process
GO:0003674 molecular_function
 ND molecular_function
GO:0005576 extracellular region
 IDA cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0008150 biological_process
 ND biological_process
GO:0031093 platelet alpha granule lu
men
 TAS cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0072562 blood microparticle
 IDA cellular_component

Diseases

Associated diseases References
Endometriosis PMID: 25449831
Endometriosis PMID: 25449831
Polycystic ovary syndrome (PCOS) PMID: 23338533
Polycystic ovary syndrome (PCOS) PMID: 23338533
Endometriosis INFBASE25449831

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25449831 Endometrio
sis
547 (52 with St
age I endometri
osis, 83 wth st
age 2 endometri
osis, 223 with
stage 3 endomet
riosis, 189 wit
h stage IV endo
metriosis), 79
healthy control
s)
 Female infertility HP
IGKC
A1BG
 Show abstract