COSMIC:
COSM4986557 (not active)
Revel Score:
ENST00000367021 (MANE Select)
0.385
ENST00000542854
0.385
ENST00000456314
0.385
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40702004 (EAS)
Genomes Max Group AF
0.39156645 (EAS)
Exomes Max Group AF
0.40747605 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209790735C>T , CM000663.2:g.209790735C>T | GRCh38 |
| NC_000001.10:g.209964080C>T , CM000663.1:g.209964080C>T | GRCh37 |
| NC_000001.9:g.208030703C>T | NCBI36 |
| NG_007081.2:g.20400G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.820G>A | ENSP00000512426.1:p.Val274Ile | |
| ENST00000696134.1:c.*247G>A | ENSP00000512427.1:n.*247G>A | |
| ENST00000367021.8:c.820G>A MANE Select | ENSP00000355988.3:p.Val274Ile | |
| ENST00000643798.1:c.*330G>A | ENSP00000496669.1:n.*330G>A | |
| ENST00000367021.7:c.820G>A | ENSP00000355988.3:p.Val274Ile | |
| ENST00000456314.1:c.820G>A | ENSP00000403855.1:p.Val274Ile | |
| ENST00000542854.5:c.535G>A | ENSP00000440532.1:p.Val179Ile | |
| NM_001206696.1:c.535G>A | NP_001193625.1:p.Val179Ile | |
| NM_006147.3:c.820G>A | NP_006138.1:p.Val274Ile | |
| NM_006147.4:c.820G>A MANE Select | NP_006138.1:p.Val274Ile | |
| NM_001206696.2:c.535G>A | NP_001193625.1:p.Val179Ile |