COSMIC:
COSM4145565 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45588961 (AMR)
Genomes Max Group AF
0.45061178 (AMR)
Exomes Max Group AF
0.45545872 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14892029G>A , CM000673.2:g.14892029G>A | GRCh38 |
| NC_000011.9:g.14913575G>A , CM000673.1:g.14913575G>A | GRCh37 |
| NC_000011.8:g.14870151G>A | NCBI36 |
| NG_007936.1:g.5177C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334636.10:c.177C>T MANE Select | ENSP00000334592.5:p.Ser59= | |
| ENST00000334636.9:c.177C>T | ENSP00000334592.5:p.Ser59= | |
| NM_024514.4:c.177C>T | NP_078790.2:p.Ser59= | |
| XM_011519898.1:c.-121+336C>T | XP_011518200.1:n.-121+336C>T | |
| XR_242777.2:n.230C>T | ||
| XM_011519898.3:c.-121+336C>T | XP_011518200.1:n.-121+336C>T | |
| XR_242777.3:n.230C>T | ||
| NM_024514.5:c.177C>T MANE Select | NP_078790.2:p.Ser59= | |
| NM_001400558.1:c.-121+336C>T | NP_001387487.1:n.-121+336C>T |