Linked Data
ClinVar Variation Id:
302746
dbSNP Id:
rs772133269
ExAC:
11:118967714 A / G
gnomAD v2:
11-118967714-A-G
gnomAD v3:
11-119097004-A-G
gnomAD v4:
11-119097004-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119097004A>G , CM000673.2:g.119097004A>G | GRCh38 |
| NC_000011.9:g.118967714A>G , CM000673.1:g.118967714A>G | GRCh37 |
| NC_000011.8:g.118472924A>G | NCBI36 |
| NG_008918.1:g.10072T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.1445T>C | ||
| ENST00000524658.2:n.1504T>C | ||
| ENST00000530052.2:n.2510T>C | ||
| ENST00000682191.1:n.1804T>C | ||
| ENST00000682192.1:n.1667T>C | ||
| ENST00000682232.1:c.*838T>C | ENSP00000507302.1:n.*838T>C | |
| ENST00000682326.1:c.*191T>C | ENSP00000508129.1:n.*191T>C | |
| ENST00000682404.1:n.2566T>C | ||
| ENST00000682517.1:n.2791T>C | ||
| ENST00000682652.1:n.2573T>C | ||
| ENST00000682665.1:n.2165T>C | ||
| ENST00000682691.1:n.2087T>C | ||
| ENST00000682791.1:c.1134T>C | ENSP00000507312.1:p.Asp378= | |
| ENST00000682811.1:c.*272T>C | ENSP00000508196.1:n.*272T>C | |
| ENST00000682883.1:n.1325T>C | ||
| ENST00000682946.1:c.*303T>C | ENSP00000506856.1:n.*303T>C | |
| ENST00000683143.1:c.*926T>C | ENSP00000507168.1:n.*926T>C | |
| ENST00000683373.1:n.1726T>C | ||
| ENST00000683558.1:n.1970T>C | ||
| ENST00000683567.1:n.1330T>C | ||
| ENST00000683955.1:n.1977T>C | ||
| ENST00000684142.1:c.*1062T>C | ENSP00000508008.1:n.*1062T>C | |
| ENST00000684252.1:n.1862T>C | ||
| ENST00000684255.1:c.*1092T>C | ENSP00000507398.1:n.*1092T>C | |
| ENST00000684315.1:n.2032T>C | ||
| ENST00000684345.1:c.*1365T>C | ENSP00000507163.1:n.*1365T>C | |
| ENST00000684499.1:c.*1492T>C | ENSP00000506800.1:n.*1492T>C | |
| ENST00000684682.1:c.*1196T>C | ENSP00000507326.1:n.*1196T>C | |
| ENST00000354202.9:c.1221T>C MANE Select | ENSP00000346142.4:p.Asp407= | |
| ENST00000636404.1:c.292T>C | ||
| ENST00000638850.1:c.744T>C | ||
| ENST00000639704.1:c.1128T>C | ENSP00000491336.1:p.Asp376= | |
| ENST00000640747.1:c.*896T>C | ENSP00000492730.1:n.*896T>C | |
| ENST00000354202.8:c.1221T>C | ENSP00000346142.4:p.Asp407= | |
| ENST00000392834.7:c.*926T>C | ENSP00000376579.3:n.*926T>C | |
| ENST00000409993.6:c.1221T>C | ENSP00000386597.2:p.Asp407= | |
| ENST00000414373.5:c.*690T>C | ENSP00000402019.1:n.*690T>C | |
| ENST00000442480.1:c.953T>C | ENSP00000406591.1:n.953T>C | |
| ENST00000461999.1:n.1632T>C | ||
| ENST00000481084.5:n.1850T>C | ||
| NM_001382.3:c.1221T>C | NP_001373.2:p.Asp407= | |
| XM_005271422.2:c.1299T>C | XP_005271479.1:p.Asp433= | |
| XM_011542648.1:c.978T>C | XP_011540950.1:p.Asp326= | |
| XR_947801.1:n.1380T>C | ||
| XM_005271422.3:c.1299T>C | XP_005271479.1:p.Asp433= | |
| XM_011542648.2:c.978T>C | XP_011540950.1:p.Asp326= | |
| XM_017017293.2:c.900T>C | XP_016872782.1:p.Asp300= | |
| XM_017017294.2:c.*547T>C | XP_016872783.1:n.*547T>C | |
| XM_017017295.1:c.705T>C | XP_016872784.1:p.Asp235= | |
| XR_001747785.2:n.1255T>C | ||
| XR_947801.2:n.1167T>C | ||
| NM_001382.4:c.1221T>C MANE Select | NP_001373.2:p.Asp407= |