Linked Data
ClinVar Variation Id:
93728
dbSNP Id:
rs643788
ExAC:
11:118967758 T / C
gnomAD v2:
11-118967758-T-C
gnomAD v3:
11-119097048-T-C
gnomAD v4:
11-119097048-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119097048T>C , CM000673.2:g.119097048T>C | GRCh38 |
| NC_000011.9:g.118967758T>C , CM000673.1:g.118967758T>C | GRCh37 |
| NC_000011.8:g.118472968T>C | NCBI36 |
| NG_008918.1:g.10028A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.1401A>G | ||
| ENST00000524658.2:n.1460A>G | ||
| ENST00000530052.2:n.2466A>G | ||
| ENST00000682191.1:n.1760A>G | ||
| ENST00000682192.1:n.1623A>G | ||
| ENST00000682232.1:c.*794A>G | ENSP00000507302.1:n.*794A>G | |
| ENST00000682326.1:c.*147A>G | ENSP00000508129.1:n.*147A>G | |
| ENST00000682404.1:n.2522A>G | ||
| ENST00000682517.1:n.2747A>G | ||
| ENST00000682652.1:n.2529A>G | ||
| ENST00000682665.1:n.2121A>G | ||
| ENST00000682691.1:n.2043A>G | ||
| ENST00000682791.1:c.1090A>G | ENSP00000507312.1:p.Ile364Val | |
| ENST00000682811.1:c.*228A>G | ENSP00000508196.1:n.*228A>G | |
| ENST00000682883.1:n.1281A>G | ||
| ENST00000682946.1:c.*259A>G | ENSP00000506856.1:n.*259A>G | |
| ENST00000683143.1:c.*882A>G | ENSP00000507168.1:n.*882A>G | |
| ENST00000683373.1:n.1682A>G | ||
| ENST00000683558.1:n.1926A>G | ||
| ENST00000683567.1:n.1286A>G | ||
| ENST00000683955.1:n.1933A>G | ||
| ENST00000684142.1:c.*1018A>G | ENSP00000508008.1:n.*1018A>G | |
| ENST00000684252.1:n.1818A>G | ||
| ENST00000684255.1:c.*1048A>G | ENSP00000507398.1:n.*1048A>G | |
| ENST00000684315.1:n.1988A>G | ||
| ENST00000684345.1:c.*1321A>G | ENSP00000507163.1:n.*1321A>G | |
| ENST00000684499.1:c.*1448A>G | ENSP00000506800.1:n.*1448A>G | |
| ENST00000684682.1:c.*1152A>G | ENSP00000507326.1:n.*1152A>G | |
| ENST00000354202.9:c.1177A>G MANE Select | ENSP00000346142.4:p.Ile393Val | |
| ENST00000636404.1:c.248A>G | ||
| ENST00000638850.1:c.700A>G | ||
| ENST00000639704.1:c.1084A>G | ENSP00000491336.1:p.Ile362Val | |
| ENST00000640747.1:c.*852A>G | ENSP00000492730.1:n.*852A>G | |
| ENST00000354202.8:c.1177A>G | ENSP00000346142.4:p.Ile393Val | |
| ENST00000392834.7:c.*882A>G | ENSP00000376579.3:n.*882A>G | |
| ENST00000409993.6:c.1177A>G | ENSP00000386597.2:p.Ile393Val | |
| ENST00000414373.5:c.*646A>G | ENSP00000402019.1:n.*646A>G | |
| ENST00000442480.1:c.909A>G | ENSP00000406591.1:n.909A>G | |
| ENST00000461999.1:n.1588A>G | ||
| ENST00000481084.5:n.1806A>G | ||
| NM_001382.3:c.1177A>G | NP_001373.2:p.Ile393Val | |
| XM_005271422.2:c.1255A>G | XP_005271479.1:p.Ile419Val | |
| XM_011542648.1:c.934A>G | XP_011540950.1:p.Ile312Val | |
| XR_947801.1:n.1336A>G | ||
| XM_005271422.3:c.1255A>G | XP_005271479.1:p.Ile419Val | |
| XM_011542648.2:c.934A>G | XP_011540950.1:p.Ile312Val | |
| XM_017017293.2:c.856A>G | XP_016872782.1:p.Ile286Val | |
| XM_017017294.2:c.*503A>G | XP_016872783.1:n.*503A>G | |
| XM_017017295.1:c.661A>G | XP_016872784.1:p.Ile221Val | |
| XR_001747785.2:n.1211A>G | ||
| XR_947801.2:n.1123A>G | ||
| NM_001382.4:c.1177A>G MANE Select | NP_001373.2:p.Ile393Val |