COSMIC:
COSM3747026 (not active)
COSM3747027 (not active)
Revel Score:
ENST00000294383 (MANE Select)
0.078
ENST00000407756
0.078
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8946243 (EAS)
Genomes Max Group AF
0.88495345 (EAS)
Exomes Max Group AF
0.89355327 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55075501A>G , CM000663.2:g.55075501A>G | GRCh38 |
| NC_000001.10:g.55541174A>G , CM000663.1:g.55541174A>G | GRCh37 |
| NC_000001.9:g.55313762A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484447.6:c.7403T>C | ENSP00000489026.2:p.Val2468Ala | |
| ENST00000294383.7:c.7403T>C MANE Select | ENSP00000294383.5:p.Val2468Ala | |
| ENST00000294383.6:c.7403T>C | ENSP00000294383.5:p.Val2468Ala | |
| NM_015306.2:c.7403T>C | NP_056121.2:p.Val2468Ala | |
| XM_005270690.2:c.5618T>C | XP_005270747.1:p.Val1873Ala | |
| XM_006710511.2:c.7400T>C | XP_006710574.2:p.Val2467Ala | |
| XM_011541122.1:c.7403T>C | XP_011539424.1:p.Val2468Ala | |
| XM_005270690.3:c.5618T>C | XP_005270747.1:p.Val1873Ala | |
| XM_017000831.1:c.7463T>C | XP_016856320.1:p.Val2488Ala | |
| XM_017000832.1:c.7460T>C | XP_016856321.1:p.Val2487Ala | |
| XM_017000833.1:c.6938T>C | XP_016856322.1:p.Val2313Ala | |
| XM_017000834.1:c.6878T>C | XP_016856323.1:p.Val2293Ala | |
| XR_001737080.1:n.7721T>C | ||
| NM_015306.3:c.7403T>C MANE Select | NP_056121.2:p.Val2468Ala |