COSMIC:
COSM4415602 (not active)
Revel Score:
ENST00000274793 (MANE Select)
0.380
ENST00000537365
0.380
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11494439 (EAS)
Genomes Max Group AF
0.06651514 (EAS)
Exomes Max Group AF
0.12061725 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.46709361C>A , CM000668.2:g.46709361C>A | GRCh38 |
| NC_000006.11:g.46677098C>A , CM000668.1:g.46677098C>A | GRCh37 |
| NC_000006.10:g.46785057C>A | NCBI36 |
| NG_016204.1:g.31333G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274793.12:c.835G>T MANE Select | ENSP00000274793.7:p.Val279Phe | |
| ENST00000274793.11:c.835G>T | ENSP00000274793.7:p.Val279Phe | |
| ENST00000537365.1:c.835G>T | ENSP00000445666.1:p.Val279Phe | |
| NM_001168357.1:c.835G>T | NP_001161829.1:p.Val279Phe | |
| NM_005084.3:c.835G>T | NP_005075.3:p.Val279Phe | |
| XM_005249408.3:c.835G>T | XP_005249465.1:p.Val279Phe | |
| XM_005249409.2:c.777+1184G>T | XP_005249466.1:n.777+1184G>T | |
| XM_005249408.4:c.835G>T | XP_005249465.1:p.Val279Phe | |
| XR_001743639.2:n.1023+1184G>T | ||
| XR_002956305.1:n.2006G>T | ||
| NM_005084.4:c.835G>T MANE Select | NP_005075.3:p.Val279Phe | |
| NM_001168357.2:c.835G>T | NP_001161829.1:p.Val279Phe |