Linked Data
ClinVar Variation Id:
477295
dbSNP Id:
rs1181141404
gnomAD v2:
14-95590984-C-T
gnomAD v3:
14-95124647-C-T
gnomAD v4:
14-95124647-C-T
COSMIC:
COSM4053292
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95124647C>T , CM000676.2:g.95124647C>T | GRCh38 |
| NC_000014.8:g.95590984C>T , CM000676.1:g.95590984C>T | GRCh37 |
| NC_000014.7:g.94660737C>T | NCBI36 |
| NG_016311.1:g.37776G>A , LRG_492:g.37776G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529720.2:c.925G>A | ENSP00000433926.2:p.Val309Ile | |
| ENST00000531162.7:c.925G>A | ENSP00000433060.3:p.Val309Ile | |
| ENST00000674628.2:c.925G>A | ENSP00000502730.2:p.Val309Ile | |
| ENST00000675540.2:c.925G>A | ENSP00000501988.2:p.Val309Ile | |
| ENST00000696733.1:c.925G>A | ENSP00000512838.1:p.Val309Ile | |
| ENST00000696734.1:c.925G>A | ENSP00000512839.1:p.Val309Ile | |
| ENST00000696736.1:c.925G>A | ENSP00000512840.1:p.Val309Ile | |
| ENST00000696737.1:c.925G>A | ENSP00000512841.1:p.Val309Ile | |
| ENST00000696921.1:n.2031G>A | ||
| ENST00000696922.1:n.1334G>A | ||
| ENST00000696923.1:c.925G>A | ENSP00000512976.1:p.Val309Ile | |
| ENST00000696924.1:c.925G>A | ENSP00000512977.1:p.Val309Ile | |
| ENST00000696925.1:n.1334G>A | ||
| ENST00000696927.1:n.528G>A | ||
| ENST00000696928.1:n.1122G>A | ||
| ENST00000343455.8:c.925G>A MANE Select | ENSP00000343745.3:p.Val309Ile | |
| ENST00000393063.6:c.925G>A | ENSP00000376783.1:p.Val309Ile | |
| ENST00000526495.6:c.925G>A | ENSP00000437256.1:p.Val309Ile | |
| ENST00000532939.3:c.925G>A | ENSP00000452556.2:p.Val309Ile | |
| ENST00000556045.6:c.925G>A | ENSP00000451041.2:p.Val309Ile | |
| ENST00000674628.1:c.925G>A | ENSP00000502730.1:p.Val309Ile | |
| ENST00000675995.1:c.925G>A | ENSP00000502591.1:p.Val309Ile | |
| ENST00000343455.7:c.925G>A | ENSP00000343745.3:p.Val309Ile | |
| ENST00000393063.5:c.925G>A | ENSP00000376783.1:p.Val309Ile | |
| ENST00000526495.5:c.925G>A | ENSP00000437256.1:p.Val309Ile | |
| ENST00000527414.5:c.925G>A | ENSP00000435681.1:p.Val309Ile | |
| ENST00000541352.5:c.925G>A | ENSP00000444719.1:p.Val309Ile | |
| NM_001195573.1:c.925G>A | NP_001182502.1:p.Val309Ile | |
| NM_001271282.2:c.925G>A | NP_001258211.1:p.Val309Ile | |
| NM_001291628.1:c.925G>A | NP_001278557.1:p.Val309Ile | |
| NM_030621.4:c.925G>A | NP_085124.2:p.Val309Ile | |
| NM_177438.2:c.925G>A , LRG_492t1:c.925G>A | NP_803187.1:p.Val309Ile | |
| XM_011536599.1:c.925G>A | XP_011534901.1:p.Val309Ile | |
| XM_011536600.1:c.925G>A | XP_011534902.1:p.Val309Ile | |
| XM_011536601.1:c.925G>A | XP_011534903.1:p.Val309Ile | |
| XM_011536602.1:c.925G>A | XP_011534904.1:p.Val309Ile | |
| XM_011536603.1:c.925G>A | XP_011534905.1:p.Val309Ile | |
| XM_011536604.1:c.520G>A | XP_011534906.1:p.Val174Ile | |
| XM_011536599.2:c.925G>A | XP_011534901.1:p.Val309Ile | |
| XM_011536600.3:c.925G>A | XP_011534902.1:p.Val309Ile | |
| XM_011536601.3:c.925G>A | XP_011534903.1:p.Val309Ile | |
| XM_011536602.3:c.925G>A | XP_011534904.1:p.Val309Ile | |
| XM_011536604.2:c.520G>A | XP_011534906.1:p.Val174Ile | |
| XM_017021120.2:c.925G>A | XP_016876609.1:p.Val309Ile | |
| XM_017021121.2:c.925G>A | XP_016876610.1:p.Val309Ile | |
| XM_017021122.2:c.520G>A | XP_016876611.1:p.Val174Ile | |
| XM_017021123.2:c.520G>A | XP_016876612.1:p.Val174Ile | |
| NM_001271282.3:c.925G>A | NP_001258211.1:p.Val309Ile | |
| NM_001291628.2:c.925G>A | NP_001278557.1:p.Val309Ile | |
| NM_177438.3:c.925G>A MANE Select | NP_803187.1:p.Val309Ile | |
| NM_001395677.1:c.925G>A | NP_001382606.1:p.Val309Ile | |
| NM_001395678.1:c.925G>A | NP_001382607.1:p.Val309Ile | |
| NM_001395679.1:c.925G>A | NP_001382608.1:p.Val309Ile | |
| NM_001395680.1:c.925G>A | NP_001382609.1:p.Val309Ile | |
| NM_001395682.1:c.925G>A | NP_001382611.1:p.Val309Ile | |
| NM_001395683.1:c.925G>A | NP_001382612.1:p.Val309Ile | |
| NM_001395684.1:c.925G>A | NP_001382613.1:p.Val309Ile | |
| NM_001395685.1:c.925G>A | NP_001382614.1:p.Val309Ile | |
| NM_001395686.1:c.643G>A | NP_001382615.1:p.Val215Ile | |
| NM_001395687.1:c.520G>A | NP_001382616.1:p.Val174Ile | |
| NM_001395688.1:c.520G>A | NP_001382617.1:p.Val174Ile | |
| NM_001395689.1:c.520G>A | NP_001382618.1:p.Val174Ile | |
| NM_001395690.1:c.520G>A | NP_001382619.1:p.Val174Ile | |
| NM_001395691.1:c.358G>A | NP_001382620.1:p.Val120Ile | |
| NM_001395692.1:c.925G>A | NP_001382621.1:p.Val309Ile | |
| NM_001395693.1:c.925G>A | NP_001382622.1:p.Val309Ile | |
| NM_001395694.1:c.925G>A | NP_001382623.1:p.Val309Ile | |
| NM_001395695.1:c.925G>A | NP_001382624.1:p.Val309Ile | |
| NM_001395696.1:c.520G>A | NP_001382625.1:p.Val174Ile | |
| NM_001395697.1:c.-644G>A | NP_001382626.1:n.-644G>A | |
| NM_001395698.1:c.520G>A | NP_001382627.1:p.Val174Ile | |
| NM_001395699.1:c.925G>A | NP_001382628.1:p.Val309Ile | |
| NM_001395700.1:c.925G>A | NP_001382629.1:p.Val309Ile | |
| NR_172715.1:n.1139G>A | ||
| NR_172716.1:n.1270G>A | ||
| NR_172717.1:n.1437G>A | ||
| NR_172718.1:n.1437G>A | ||
| NR_172719.1:n.1270G>A | ||
| NR_172720.1:n.1270G>A |