COSMIC:
COSM150726 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24796473 (EAS)
Genomes Max Group AF
0.23660797 (NFE)
Exomes Max Group AF
0.25165671 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129822779G>A , CM000671.2:g.129822779G>A | GRCh38 |
| NC_000009.11:g.132585058G>A , CM000671.1:g.132585058G>A | GRCh37 |
| NC_000009.10:g.131624879G>A | NCBI36 |
| NG_008049.1:g.6384C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.246C>T MANE Select | ENSP00000345719.4:p.Ala82= | |
| ENST00000651202.1:c.342C>T | ENSP00000498222.1:p.Ala114= | |
| ENST00000351698.4:c.246C>T | ENSP00000345719.4:p.Ala82= | |
| ENST00000473084.1:n.265C>T | ||
| ENST00000473604.2:n.356C>T | ||
| NM_000113.2:c.246C>T | NP_000104.1:p.Ala82= | |
| XR_929731.1:n.406C>T | ||
| XR_929731.3:n.274C>T | ||
| NM_000113.3:c.246C>T MANE Select | NP_000104.1:p.Ala82= |