COSMIC:
COSM4162508 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38456569 (SAS)
Genomes Max Group AF
0.36655467 (SAS)
Exomes Max Group AF
0.38485192 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95396288G>A , CM000669.2:g.95396288G>A | GRCh38 |
| NC_000007.13:g.95025600G>A , CM000669.1:g.95025600G>A | GRCh37 |
| NC_000007.12:g.94863536G>A | NCBI36 |
| NG_008726.1:g.5088C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265627.10:c.63C>T MANE Select | ENSP00000265627.5:p.Phe21= | |
| ENST00000265627.9:c.63C>T | ENSP00000265627.5:p.Phe21= | |
| ENST00000418617.5:c.63C>T | ENSP00000393174.1:p.Phe21= | |
| ENST00000427422.5:c.63C>T | ENSP00000413276.1:p.Phe21= | |
| ENST00000442770.5:c.63C>T | ENSP00000390253.1:p.Phe21= | |
| ENST00000451904.5:c.63C>T | ENSP00000403850.1:p.Phe21= | |
| ENST00000456855.5:c.63C>T | ENSP00000391072.1:p.Phe21= | |
| ENST00000482624.5:n.81C>T | ||
| NM_000940.2:c.63C>T | NP_000931.1:p.Phe21= | |
| NM_000940.3:c.63C>T MANE Select | NP_000931.1:p.Phe21= |