Linked Data
ClinVar Variation Id:
302745
dbSNP Id:
rs8551
gnomAD v2:
11-118967524-C-T
gnomAD v3:
11-119096814-C-T
gnomAD v4:
11-119096814-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119096814C>T , CM000673.2:g.119096814C>T | GRCh38 |
| NC_000011.9:g.118967524C>T , CM000673.1:g.118967524C>T | GRCh37 |
| NC_000011.8:g.118472734C>T | NCBI36 |
| NG_008918.1:g.10262G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000445653.6:n.1635G>A | ||
| ENST00000524658.2:n.1694G>A | ||
| ENST00000530052.2:n.2700G>A | ||
| ENST00000682191.1:n.1994G>A | ||
| ENST00000682192.1:n.1857G>A | ||
| ENST00000682232.1:c.*1028G>A | ENSP00000507302.1:n.*1028G>A | |
| ENST00000682326.1:c.*381G>A | ENSP00000508129.1:n.*381G>A | |
| ENST00000682404.1:n.2756G>A | ||
| ENST00000682517.1:n.2981G>A | ||
| ENST00000682652.1:n.2763G>A | ||
| ENST00000682665.1:n.2355G>A | ||
| ENST00000682691.1:n.2277G>A | ||
| ENST00000682791.1:c.*184G>A | ENSP00000507312.1:n.*184G>A | |
| ENST00000682811.1:c.*462G>A | ENSP00000508196.1:n.*462G>A | |
| ENST00000682883.1:n.1515G>A | ||
| ENST00000682946.1:c.*493G>A | ENSP00000506856.1:n.*493G>A | |
| ENST00000683143.1:c.*1116G>A | ENSP00000507168.1:n.*1116G>A | |
| ENST00000683373.1:n.1916G>A | ||
| ENST00000683558.1:n.2160G>A | ||
| ENST00000683567.1:n.1520G>A | ||
| ENST00000683955.1:n.2167G>A | ||
| ENST00000684142.1:c.*1252G>A | ENSP00000508008.1:n.*1252G>A | |
| ENST00000684252.1:n.2052G>A | ||
| ENST00000684255.1:c.*1282G>A | ENSP00000507398.1:n.*1282G>A | |
| ENST00000684315.1:n.2222G>A | ||
| ENST00000684345.1:c.*1555G>A | ENSP00000507163.1:n.*1555G>A | |
| ENST00000684499.1:c.*1682G>A | ENSP00000506800.1:n.*1682G>A | |
| ENST00000684682.1:c.*1386G>A | ENSP00000507326.1:n.*1386G>A | |
| ENST00000354202.9:c.*184G>A MANE Select | ENSP00000346142.4:n.*184G>A | |
| ENST00000636404.1:c.482G>A | ||
| ENST00000638850.1:c.934G>A | ||
| ENST00000639704.1:c.*184G>A | ENSP00000491336.1:n.*184G>A | |
| ENST00000640747.1:c.*1086G>A | ENSP00000492730.1:n.*1086G>A | |
| ENST00000354202.8:c.*184G>A | ENSP00000346142.4:n.*184G>A | |
| ENST00000392834.7:c.*1116G>A | ENSP00000376579.3:n.*1116G>A | |
| ENST00000409993.6:c.*184G>A | ENSP00000386597.2:n.*184G>A | |
| ENST00000414373.5:c.*880G>A | ENSP00000402019.1:n.*880G>A | |
| ENST00000461999.1:n.1822G>A | ||
| ENST00000481084.5:n.2040G>A | ||
| NM_001382.3:c.*184G>A | NP_001373.2:n.*184G>A | |
| XM_005271422.2:c.*184G>A | XP_005271479.1:n.*184G>A | |
| XM_011542648.1:c.*184G>A | XP_011540950.1:n.*184G>A | |
| XR_947801.1:n.1570G>A | ||
| XM_005271422.3:c.*184G>A | XP_005271479.1:n.*184G>A | |
| XM_011542648.2:c.*184G>A | XP_011540950.1:n.*184G>A | |
| XM_017017293.2:c.*184G>A | XP_016872782.1:n.*184G>A | |
| XM_017017294.2:c.*737G>A | XP_016872783.1:n.*737G>A | |
| XM_017017295.1:c.*184G>A | XP_016872784.1:n.*184G>A | |
| XR_001747785.2:n.1445G>A | ||
| XR_947801.2:n.1357G>A | ||
| NM_001382.4:c.*184G>A MANE Select | NP_001373.2:n.*184G>A |