Linked Data
ClinVar Variation Id:
756562
ClinVar RCV Id:
RCV000934071
dbSNP Id:
rs777530944
ExAC:
11:118967987 C / T
gnomAD v2:
11-118967987-C-T
gnomAD v3:
11-119097277-C-T
gnomAD v4:
11-119097277-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119097277C>T , CM000673.2:g.119097277C>T | GRCh38 |
| NC_000011.9:g.118967987C>T , CM000673.1:g.118967987C>T | GRCh37 |
| NC_000011.8:g.118473197C>T | NCBI36 |
| NG_008918.1:g.9799G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.1250G>A | ||
| ENST00000524658.2:n.1231G>A | ||
| ENST00000530052.2:n.2237G>A | ||
| ENST00000682191.1:n.1531G>A | ||
| ENST00000682192.1:n.1394G>A | ||
| ENST00000682232.1:c.*643G>A | ENSP00000507302.1:n.*643G>A | |
| ENST00000682326.1:c.938G>A | ENSP00000508129.1:p.Trp313Ter | |
| ENST00000682404.1:n.2293G>A | ||
| ENST00000682517.1:n.2596G>A | ||
| ENST00000682652.1:n.2300G>A | ||
| ENST00000682665.1:n.1892G>A | ||
| ENST00000682691.1:n.1892G>A | ||
| ENST00000682791.1:c.939G>A | ENSP00000507312.1:p.Leu313= | |
| ENST00000682811.1:c.*77G>A | ENSP00000508196.1:n.*77G>A | |
| ENST00000682883.1:n.1052G>A | ||
| ENST00000682946.1:c.*108G>A | ENSP00000506856.1:n.*108G>A | |
| ENST00000683143.1:c.*731G>A | ENSP00000507168.1:n.*731G>A | |
| ENST00000683373.1:n.1531G>A | ||
| ENST00000683558.1:n.1697G>A | ||
| ENST00000683567.1:n.1135G>A | ||
| ENST00000683955.1:n.1782G>A | ||
| ENST00000684142.1:c.*867G>A | ENSP00000508008.1:n.*867G>A | |
| ENST00000684252.1:n.1589G>A | ||
| ENST00000684255.1:c.*897G>A | ENSP00000507398.1:n.*897G>A | |
| ENST00000684315.1:n.1759G>A | ||
| ENST00000684345.1:c.*1170G>A | ENSP00000507163.1:n.*1170G>A | |
| ENST00000684499.1:c.*1297G>A | ENSP00000506800.1:n.*1297G>A | |
| ENST00000684682.1:c.*923G>A | ENSP00000507326.1:n.*923G>A | |
| ENST00000354202.9:c.1026G>A MANE Select | ENSP00000346142.4:p.Leu342= | |
| ENST00000636404.1:c.233-214G>A | ||
| ENST00000638850.1:c.549G>A | ||
| ENST00000639704.1:c.933G>A | ENSP00000491336.1:p.Leu311= | |
| ENST00000640102.1:c.*679G>A | ENSP00000492027.1:n.*679G>A | |
| ENST00000640747.1:c.*701G>A | ENSP00000492730.1:n.*701G>A | |
| ENST00000354202.8:c.1026G>A | ENSP00000346142.4:p.Leu342= | |
| ENST00000392834.7:c.*731G>A | ENSP00000376579.3:n.*731G>A | |
| ENST00000409993.6:c.1026G>A | ENSP00000386597.2:p.Leu342= | |
| ENST00000414373.5:c.*495G>A | ENSP00000402019.1:n.*495G>A | |
| ENST00000442480.1:c.758G>A | ENSP00000406591.1:n.758G>A | |
| ENST00000461999.1:n.1359G>A | ||
| ENST00000481084.5:n.1655G>A | ||
| ENST00000525456.5:n.1006G>A | ||
| NM_001382.3:c.1026G>A | NP_001373.2:p.Leu342= | |
| XM_005271422.2:c.1026G>A | XP_005271479.1:p.Leu342= | |
| XM_011542648.1:c.705G>A | XP_011540950.1:p.Leu235= | |
| XR_947801.1:n.1185G>A | ||
| XM_005271422.3:c.1026G>A | XP_005271479.1:p.Leu342= | |
| XM_011542648.2:c.705G>A | XP_011540950.1:p.Leu235= | |
| XM_017017293.2:c.705G>A | XP_016872782.1:p.Leu235= | |
| XM_017017294.2:c.*274G>A | XP_016872783.1:n.*274G>A | |
| XM_017017295.1:c.510G>A | XP_016872784.1:p.Leu170= | |
| XR_001747785.2:n.1060G>A | ||
| XR_947801.2:n.972G>A | ||
| NM_001382.4:c.1026G>A MANE Select | NP_001373.2:p.Leu342= |