COSMIC:
COSM6350826 (not active)
Revel Score:
ENST00000377966 (MANE Select)
0.126
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25920507 (EAS)
Genomes Max Group AF
0.28165889 (EAS)
Exomes Max Group AF
0.25498299 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36087879G>A , CM000671.2:g.36087879G>A | GRCh38 |
| NC_000009.11:g.36087876G>A , CM000671.1:g.36087876G>A | GRCh37 |
| NC_000009.10:g.36077876G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377966.4:c.823G>A MANE Select | ENSP00000367202.3:p.Val275Ile | |
| ENST00000377966.3:c.823G>A | ENSP00000367202.3:p.Val275Ile | |
| NM_001316345.1:c.439G>A | NP_001303274.1:p.Val147Ile | |
| NM_021111.2:c.823G>A | NP_066934.1:p.Val275Ile | |
| XM_017015207.1:c.712G>A | XP_016870696.1:p.Val238Ile | |
| XM_017015208.1:c.439G>A | XP_016870697.1:p.Val147Ile | |
| XM_017015209.1:c.439G>A | XP_016870698.1:p.Val147Ile | |
| XM_017015210.1:c.439G>A | XP_016870699.1:p.Val147Ile | |
| XM_017015211.2:c.823G>A | XP_016870700.1:p.Val275Ile | |
| NM_021111.3:c.823G>A MANE Select | NP_066934.1:p.Val275Ile | |
| NM_001316345.2:c.439G>A | NP_001303274.1:p.Val147Ile |