Linked Data
ClinVar Variation Id:
302748
dbSNP Id:
rs377263230
ExAC:
11:118969124 G / A
gnomAD v2:
11-118969124-G-A
gnomAD v3:
11-119098414-G-A
gnomAD v4:
11-119098414-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119098414G>A , CM000673.2:g.119098414G>A | GRCh38 |
| NC_000011.9:g.118969124G>A , CM000673.1:g.118969124G>A | GRCh37 |
| NC_000011.8:g.118474334G>A | NCBI36 |
| NG_008918.1:g.8662C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.893C>T | ||
| ENST00000524658.2:n.756C>T | ||
| ENST00000530052.2:n.1459C>T | ||
| ENST00000682191.1:n.919C>T | ||
| ENST00000682192.1:n.919C>T | ||
| ENST00000682232.1:c.*422C>T | ENSP00000507302.1:n.*422C>T | |
| ENST00000682326.1:c.717C>T | ENSP00000508129.1:p.Leu239= | |
| ENST00000682404.1:n.1459C>T | ||
| ENST00000682517.1:n.1459C>T | ||
| ENST00000682652.1:n.1688C>T | ||
| ENST00000682665.1:n.1114C>T | ||
| ENST00000682691.1:n.1114C>T | ||
| ENST00000682791.1:c.630C>T | ENSP00000507312.1:p.Leu210= | |
| ENST00000682811.1:c.717C>T | ENSP00000508196.1:p.Leu239= | |
| ENST00000682883.1:n.1020C>T | ||
| ENST00000682946.1:c.717C>T | ENSP00000506856.1:p.Leu239= | |
| ENST00000683143.1:c.*422C>T | ENSP00000507168.1:n.*422C>T | |
| ENST00000683373.1:n.919C>T | ||
| ENST00000683558.1:n.919C>T | ||
| ENST00000683567.1:n.944C>T | ||
| ENST00000683955.1:n.1114C>T | ||
| ENST00000684142.1:c.*392C>T | ENSP00000508008.1:n.*392C>T | |
| ENST00000684252.1:n.1114C>T | ||
| ENST00000684255.1:c.*422C>T | ENSP00000507398.1:n.*422C>T | |
| ENST00000684315.1:n.1450C>T | ||
| ENST00000684345.1:c.*392C>T | ENSP00000507163.1:n.*392C>T | |
| ENST00000684499.1:c.*822C>T | ENSP00000506800.1:n.*822C>T | |
| ENST00000684682.1:c.*145C>T | ENSP00000507326.1:n.*145C>T | |
| ENST00000354202.9:c.717C>T MANE Select | ENSP00000346142.4:p.Leu239= | |
| ENST00000636404.1:c.221C>T | ||
| ENST00000638850.1:c.221C>T | ||
| ENST00000639704.1:c.624C>T | ENSP00000491336.1:p.Leu208= | |
| ENST00000640102.1:c.*370C>T | ENSP00000492027.1:n.*370C>T | |
| ENST00000640747.1:c.*392C>T | ENSP00000492730.1:n.*392C>T | |
| ENST00000354202.8:c.717C>T | ENSP00000346142.4:p.Leu239= | |
| ENST00000392834.7:c.*422C>T | ENSP00000376579.3:n.*422C>T | |
| ENST00000409993.6:c.717C>T | ENSP00000386597.2:p.Leu239= | |
| ENST00000414373.5:c.*463C>T | ENSP00000402019.1:n.*463C>T | |
| ENST00000442480.1:c.567C>T | ENSP00000406591.1:p.Leu189= | |
| ENST00000461999.1:n.222C>T | ||
| ENST00000481084.5:n.1346C>T | ||
| ENST00000524658.1:n.22C>T | ||
| ENST00000525456.5:n.720C>T | ||
| ENST00000530052.1:n.615C>T | ||
| ENST00000533687.1:n.729C>T | ||
| NM_001382.3:c.717C>T | NP_001373.2:p.Leu239= | |
| XM_005271422.2:c.717C>T | XP_005271479.1:p.Leu239= | |
| XM_011542648.1:c.396C>T | XP_011540950.1:p.Leu132= | |
| XR_947801.1:n.1153C>T | ||
| XM_005271422.3:c.717C>T | XP_005271479.1:p.Leu239= | |
| XM_011542648.2:c.396C>T | XP_011540950.1:p.Leu132= | |
| XM_017017293.2:c.396C>T | XP_016872782.1:p.Leu132= | |
| XM_017017294.2:c.717C>T | XP_016872783.1:p.Leu239= | |
| XM_017017295.1:c.201C>T | XP_016872784.1:p.Leu67= | |
| XR_001747785.2:n.940C>T | ||
| XR_947801.2:n.940C>T | ||
| NM_001382.4:c.717C>T MANE Select | NP_001373.2:p.Leu239= |