COSMIC:
COSM148525 (not active)
COSM3756398 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64305 (EAS)
Genomes Max Group AF
0.63159539 (EAS)
Exomes Max Group AF
0.64257298 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15652911G>A , CM000681.2:g.15652911G>A | GRCh38 |
| NC_000019.9:g.15763721G>A , CM000681.1:g.15763721G>A | GRCh37 |
| NC_000019.8:g.15624721G>A | NCBI36 |
| NG_007964.1:g.17015G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221307.13:c.1074G>A MANE Select | ENSP00000221307.6:p.Val358= | |
| ENST00000221307.12:c.1074G>A | ENSP00000221307.6:p.Val358= | |
| ENST00000585846.1:c.1074G>A | ENSP00000468105.1:p.Val358= | |
| ENST00000586182.6:c.1074G>A | ENSP00000466395.1:p.Val358= | |
| ENST00000591058.5:c.1074G>A | ENSP00000466988.1:p.Val358= | |
| ENST00000592279.6:n.1215G>A | ||
| ENST00000592424.1:c.467G>A | ENSP00000476546.1:n.467G>A | |
| ENST00000620621.4:c.1074G>A | ENSP00000478605.1:p.Val358= | |
| NM_000896.2:c.1074G>A | NP_000887.2:p.Val358= | |
| NM_001199208.1:c.1074G>A | NP_001186137.1:p.Val358= | |
| NM_001199209.1:c.1074G>A | NP_001186138.1:p.Val358= | |
| XM_005259911.3:c.627G>A | XP_005259968.1:p.Val209= | |
| XM_011528014.1:c.627G>A | XP_011526316.1:p.Val209= | |
| XM_005259911.5:c.627G>A | XP_005259968.1:p.Val209= | |
| XM_011528014.3:c.627G>A | XP_011526316.1:p.Val209= | |
| XM_017026815.1:c.1074G>A | XP_016882304.1:p.Val358= | |
| NM_000896.3:c.1074G>A MANE Select | NP_000887.2:p.Val358= | |
| NM_001199208.2:c.1074G>A | NP_001186137.1:p.Val358= | |
| NM_001199209.2:c.1074G>A | NP_001186138.1:p.Val358= | |
| NM_001369696.1:c.1074G>A | NP_001356625.1:p.Val358= |