Linked Data
ClinVar Variation Id:
386721
dbSNP Id:
rs138519099
ExAC:
11:118971767 G / A
gnomAD v2:
11-118971767-G-A
gnomAD v3:
11-119101057-G-A
gnomAD v4:
11-119101057-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119101057G>A , CM000673.2:g.119101057G>A | GRCh38 |
| NC_000011.9:g.118971767G>A , CM000673.1:g.118971767G>A | GRCh37 |
| NC_000011.8:g.118476977G>A | NCBI36 |
| NG_008918.1:g.6019C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.419C>T | ||
| ENST00000530052.2:n.811C>T | ||
| ENST00000682191.1:n.445C>T | ||
| ENST00000682192.1:n.445C>T | ||
| ENST00000682232.1:c.162-214C>T | ENSP00000507302.1:n.162-214C>T | |
| ENST00000682326.1:c.243C>T | ENSP00000508129.1:p.Cys81= | |
| ENST00000682404.1:n.811C>T | ||
| ENST00000682517.1:n.811C>T | ||
| ENST00000682652.1:n.1040C>T | ||
| ENST00000682665.1:n.466C>T | ||
| ENST00000682691.1:n.466C>T | ||
| ENST00000682791.1:c.162-180C>T | ENSP00000507312.1:n.162-180C>T | |
| ENST00000682811.1:c.243C>T | ENSP00000508196.1:p.Cys81= | |
| ENST00000682883.1:n.372C>T | ||
| ENST00000682946.1:c.243C>T | ENSP00000506856.1:p.Cys81= | |
| ENST00000683143.1:c.162-10C>T | ENSP00000507168.1:n.162-10C>T | |
| ENST00000683373.1:n.445C>T | ||
| ENST00000683558.1:n.445C>T | ||
| ENST00000683567.1:n.470C>T | ||
| ENST00000683955.1:n.466C>T | ||
| ENST00000684142.1:c.243C>T | ENSP00000508008.1:p.Cys81= | |
| ENST00000684252.1:n.466C>T | ||
| ENST00000684255.1:c.162-214C>T | ENSP00000507398.1:n.162-214C>T | |
| ENST00000684315.1:n.802C>T | ||
| ENST00000684345.1:c.243C>T | ENSP00000507163.1:p.Cys81= | |
| ENST00000684499.1:c.*174C>T | ENSP00000506800.1:n.*174C>T | |
| ENST00000684682.1:c.161+438C>T | ENSP00000507326.1:n.161+438C>T | |
| ENST00000354202.9:c.243C>T MANE Select | ENSP00000346142.4:p.Cys81= | |
| ENST00000639704.1:c.243C>T | ENSP00000491336.1:p.Cys81= | |
| ENST00000640102.1:c.162-230C>T | ENSP00000492027.1:n.162-230C>T | |
| ENST00000640747.1:c.243C>T | ENSP00000492730.1:p.Cys81= | |
| ENST00000354202.8:c.243C>T | ENSP00000346142.4:p.Cys81= | |
| ENST00000392834.7:c.162-214C>T | ENSP00000376579.3:n.162-214C>T | |
| ENST00000409993.6:c.243C>T | ENSP00000386597.2:p.Cys81= | |
| ENST00000414373.5:c.243C>T | ENSP00000402019.1:p.Cys81= | |
| ENST00000442480.1:c.133-214C>T | ENSP00000406591.1:n.133-214C>T | |
| ENST00000445653.5:n.339-10C>T | ||
| ENST00000460183.1:n.804C>T | ||
| ENST00000472016.1:n.441C>T | ||
| ENST00000481084.5:n.1086C>T | ||
| ENST00000525456.5:n.72C>T | ||
| NM_001382.3:c.243C>T | NP_001373.2:p.Cys81= | |
| XM_005271422.2:c.243C>T | XP_005271479.1:p.Cys81= | |
| XM_011542648.1:c.-39-214C>T | XP_011540950.1:n.-39-214C>T | |
| XR_947801.1:n.679C>T | ||
| XM_005271422.3:c.243C>T | XP_005271479.1:p.Cys81= | |
| XM_011542648.2:c.-39-214C>T | XP_011540950.1:n.-39-214C>T | |
| XM_017017293.2:c.-39-214C>T | XP_016872782.1:n.-39-214C>T | |
| XM_017017294.2:c.243C>T | XP_016872783.1:p.Cys81= | |
| XM_017017295.1:c.-21+438C>T | XP_016872784.1:n.-21+438C>T | |
| XR_001747785.2:n.466C>T | ||
| XR_947801.2:n.466C>T | ||
| NM_001382.4:c.243C>T MANE Select | NP_001373.2:p.Cys81= |