Linked Data
dbSNP Id:
rs775602137
ExAC:
11:118968137 G / A
gnomAD v2:
11-118968137-G-A
gnomAD v3:
11-119097427-G-A
gnomAD v4:
11-119097427-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119097427G>A , CM000673.2:g.119097427G>A | GRCh38 |
| NC_000011.9:g.118968137G>A , CM000673.1:g.118968137G>A | GRCh37 |
| NC_000011.8:g.118473347G>A | NCBI36 |
| NG_008918.1:g.9649C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.1100C>T | ||
| ENST00000524658.2:n.1081C>T | ||
| ENST00000530052.2:n.2087C>T | ||
| ENST00000682191.1:n.1510+37C>T | ||
| ENST00000682192.1:n.1244C>T | ||
| ENST00000682232.1:c.*623-130C>T | ENSP00000507302.1:n.*623-130C>T | |
| ENST00000682326.1:c.918-130C>T | ENSP00000508129.1:n.918-130C>T | |
| ENST00000682404.1:n.2143C>T | ||
| ENST00000682517.1:n.2446C>T | ||
| ENST00000682652.1:n.2279+37C>T | ||
| ENST00000682665.1:n.1742C>T | ||
| ENST00000682691.1:n.1742C>T | ||
| ENST00000682791.1:c.918+37C>T | ENSP00000507312.1:n.918+37C>T | |
| ENST00000682811.1:c.*56+37C>T | ENSP00000508196.1:n.*56+37C>T | |
| ENST00000682883.1:n.1032-130C>T | ||
| ENST00000682946.1:c.*87+37C>T | ENSP00000506856.1:n.*87+37C>T | |
| ENST00000683143.1:c.*710+37C>T | ENSP00000507168.1:n.*710+37C>T | |
| ENST00000683373.1:n.1510+37C>T | ||
| ENST00000683558.1:n.1547C>T | ||
| ENST00000683567.1:n.1114+37C>T | ||
| ENST00000683955.1:n.1761+37C>T | ||
| ENST00000684142.1:c.*717C>T | ENSP00000508008.1:n.*717C>T | |
| ENST00000684252.1:n.1439C>T | ||
| ENST00000684255.1:c.*747C>T | ENSP00000507398.1:n.*747C>T | |
| ENST00000684315.1:n.1738+37C>T | ||
| ENST00000684345.1:c.*1020C>T | ENSP00000507163.1:n.*1020C>T | |
| ENST00000684499.1:c.*1147C>T | ENSP00000506800.1:n.*1147C>T | |
| ENST00000684682.1:c.*773C>T | ENSP00000507326.1:n.*773C>T | |
| ENST00000354202.9:c.1005+37C>T MANE Select | ENSP00000346142.4:n.1005+37C>T | |
| ENST00000636404.1:c.233-364C>T | ||
| ENST00000638850.1:c.528+18C>T | ||
| ENST00000639704.1:c.912+37C>T | ENSP00000491336.1:n.912+37C>T | |
| ENST00000640102.1:c.*658+37C>T | ENSP00000492027.1:n.*658+37C>T | |
| ENST00000640747.1:c.*680+37C>T | ENSP00000492730.1:n.*680+37C>T | |
| ENST00000354202.8:c.1005+37C>T | ENSP00000346142.4:n.1005+37C>T | |
| ENST00000392834.7:c.*710+37C>T | ENSP00000376579.3:n.*710+37C>T | |
| ENST00000409993.6:c.1005+37C>T | ENSP00000386597.2:n.1005+37C>T | |
| ENST00000414373.5:c.*475-130C>T | ENSP00000402019.1:n.*475-130C>T | |
| ENST00000442480.1:c.737+37C>T | ENSP00000406591.1:n.737+37C>T | |
| ENST00000461999.1:n.1209C>T | ||
| ENST00000481084.5:n.1634+37C>T | ||
| ENST00000524658.1:n.347C>T | ||
| ENST00000525456.5:n.856C>T | ||
| NM_001382.3:c.1005+37C>T | NP_001373.2:n.1005+37C>T | |
| XM_005271422.2:c.1005+37C>T | XP_005271479.1:n.1005+37C>T | |
| XM_011542648.1:c.684+37C>T | XP_011540950.1:n.684+37C>T | |
| XR_947801.1:n.1165-130C>T | ||
| XM_005271422.3:c.1005+37C>T | XP_005271479.1:n.1005+37C>T | |
| XM_011542648.2:c.684+37C>T | XP_011540950.1:n.684+37C>T | |
| XM_017017293.2:c.684+37C>T | XP_016872782.1:n.684+37C>T | |
| XM_017017294.2:c.*124C>T | XP_016872783.1:n.*124C>T | |
| XM_017017295.1:c.489+37C>T | XP_016872784.1:n.489+37C>T | |
| XR_001747785.2:n.1039+37C>T | ||
| XR_947801.2:n.952-130C>T | ||
| NM_001382.4:c.1005+37C>T MANE Select | NP_001373.2:n.1005+37C>T |