Linked Data
ClinVar Variation Id:
2901047
ClinVar RCV Id:
RCV003612098
dbSNP Id:
rs776312600
gnomAD v2:
7-148504795-G-A
gnomAD v3:
7-148807703-G-A
gnomAD v4:
7-148807703-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807703G>A , CM000669.2:g.148807703G>A | GRCh38 |
| NC_000007.13:g.148504795G>A , CM000669.1:g.148504795G>A | GRCh37 |
| NC_000007.12:g.148135728G>A | NCBI36 |
| NG_032043.1:g.81647C>T , LRG_531:g.81647C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.4099C>T | ||
| ENST00000682317.1:c.*1261C>T | ENSP00000508286.1:n.*1261C>T | |
| ENST00000683292.1:c.*1095C>T | ENSP00000507503.1:n.*1095C>T | |
| ENST00000683293.1:n.3918C>T | ||
| ENST00000683744.1:c.*1261C>T | ENSP00000506949.1:n.*1261C>T | |
| ENST00000684300.1:c.*1261C>T | ENSP00000508407.1:n.*1261C>T | |
| ENST00000684400.1:n.4186C>T | ||
| ENST00000684436.1:n.2515C>T | ||
| ENST00000684510.1:n.2577C>T | ||
| ENST00000320356.7:c.2199C>T MANE Select | ENSP00000320147.2:p.Tyr733= | |
| ENST00000320356.6:c.2199C>T | ENSP00000320147.2:p.Tyr733= | |
| ENST00000350995.6:c.2067C>T | ENSP00000223193.2:p.Tyr689= | |
| ENST00000460911.5:c.2184C>T | ENSP00000419711.1:p.Tyr728= | |
| ENST00000476773.5:c.2031C>T | ENSP00000419050.1:p.Tyr677= | |
| ENST00000478654.5:c.2031C>T | ENSP00000417062.1:p.Tyr677= | |
| ENST00000483967.5:c.2157C>T | ENSP00000419856.1:p.Tyr719= | |
| ENST00000492143.5:c.*2189C>T | ENSP00000417377.1:n.*2189C>T | |
| NM_001203247.1:c.2184C>T | NP_001190176.1:p.Tyr728= | |
| NM_001203248.1:c.2157C>T | NP_001190177.1:p.Tyr719= | |
| NM_001203249.1:c.2031C>T | NP_001190178.1:p.Tyr677= | |
| NM_004456.4:c.2199C>T , LRG_531t1:c.2199C>T | NP_004447.2:p.Tyr733= | |
| NM_152998.2:c.2067C>T | NP_694543.1:p.Tyr689= | |
| XM_005249962.3:c.2208C>T | XP_005250019.1:p.Tyr736= | |
| XM_005249963.3:c.2181C>T | XP_005250020.1:p.Tyr727= | |
| XM_005249964.3:c.2055C>T | XP_005250021.1:p.Tyr685= | |
| XM_011515883.1:c.2223C>T | XP_011514185.1:p.Tyr741= | |
| XM_011515884.1:c.2199C>T | XP_011514186.1:p.Tyr733= | |
| XM_011515885.1:c.2196C>T | XP_011514187.1:p.Tyr732= | |
| XM_011515886.1:c.2175C>T | XP_011514188.1:p.Tyr725= | |
| XM_011515887.1:c.2172C>T | XP_011514189.1:p.Tyr724= | |
| XM_011515888.1:c.2172C>T | XP_011514190.1:p.Tyr724= | |
| XM_011515889.1:c.2133C>T | XP_011514191.1:p.Tyr711= | |
| XM_011515890.1:c.2106C>T | XP_011514192.1:p.Tyr702= | |
| XM_011515891.1:c.2100C>T | XP_011514193.1:p.Tyr700= | |
| XM_011515892.1:c.2097C>T | XP_011514194.1:p.Tyr699= | |
| XM_011515893.1:c.2091C>T | XP_011514195.1:p.Tyr697= | |
| XM_011515894.1:c.2082C>T | XP_011514196.1:p.Tyr694= | |
| XM_011515895.1:c.2079C>T | XP_011514197.1:p.Tyr693= | |
| XM_011515896.1:c.1965C>T | XP_011514198.1:p.Tyr655= | |
| XM_011515897.1:c.1872C>T | XP_011514199.1:p.Tyr624= | |
| XM_011515898.1:c.1872C>T | XP_011514200.1:p.Tyr624= | |
| XR_928101.1:n.515+2618G>A | ||
| XR_928102.1:n.722+2618G>A | ||
| XM_005249962.4:c.2208C>T | XP_005250019.1:p.Tyr736= | |
| XM_005249963.4:c.2181C>T | XP_005250020.1:p.Tyr727= | |
| XM_005249964.4:c.2055C>T | XP_005250021.1:p.Tyr685= | |
| XM_011515883.2:c.2223C>T | XP_011514185.1:p.Tyr741= | |
| XM_011515884.2:c.2199C>T | XP_011514186.1:p.Tyr733= | |
| XM_011515885.2:c.2196C>T | XP_011514187.1:p.Tyr732= | |
| XM_011515886.2:c.2175C>T | XP_011514188.1:p.Tyr725= | |
| XM_011515887.3:c.2172C>T | XP_011514189.1:p.Tyr724= | |
| XM_011515888.2:c.2172C>T | XP_011514190.1:p.Tyr724= | |
| XM_011515889.2:c.2133C>T | XP_011514191.1:p.Tyr711= | |
| XM_011515890.2:c.2106C>T | XP_011514192.1:p.Tyr702= | |
| XM_011515891.3:c.2100C>T | XP_011514193.1:p.Tyr700= | |
| XM_011515892.2:c.2097C>T | XP_011514194.1:p.Tyr699= | |
| XM_011515893.2:c.2091C>T | XP_011514195.1:p.Tyr697= | |
| XM_011515894.2:c.2082C>T | XP_011514196.1:p.Tyr694= | |
| XM_011515895.2:c.2079C>T | XP_011514197.1:p.Tyr693= | |
| XM_011515896.2:c.1965C>T | XP_011514198.1:p.Tyr655= | |
| XM_011515897.2:c.1872C>T | XP_011514199.1:p.Tyr624= | |
| XM_011515898.2:c.1872C>T | XP_011514200.1:p.Tyr624= | |
| XM_017011817.2:c.2223C>T | XP_016867306.1:p.Tyr741= | |
| XM_017011818.1:c.2160C>T | XP_016867307.1:p.Tyr720= | |
| XM_017011819.1:c.2082C>T | XP_016867308.1:p.Tyr694= | |
| XM_017011820.2:c.2055C>T | XP_016867309.1:p.Tyr685= | |
| XM_017011821.1:c.1857C>T | XP_016867310.1:p.Tyr619= | |
| XM_024446680.1:c.2085C>T | XP_024302448.1:p.Tyr695= | |
| XR_001744581.1:n.4573C>T | ||
| XR_002956413.1:n.5229C>T | ||
| XR_002956414.1:n.5689C>T | ||
| NM_001203247.2:c.2184C>T | NP_001190176.1:p.Tyr728= | |
| NM_001203248.2:c.2157C>T | NP_001190177.1:p.Tyr719= | |
| NM_001203249.2:c.2031C>T | NP_001190178.1:p.Tyr677= | |
| NM_004456.5:c.2199C>T MANE Select | NP_004447.2:p.Tyr733= | |
| NM_152998.3:c.2067C>T | NP_694543.1:p.Tyr689= |