COSMIC:
COSM1093344 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00254354 (NFE)
Genomes Max Group AF
0.00282846 (NFE)
Exomes Max Group AF
0.00250771 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95394695G>A , CM000669.2:g.95394695G>A | GRCh38 |
| NC_000007.13:g.95024007G>A , CM000669.1:g.95024007G>A | GRCh37 |
| NC_000007.12:g.94861943G>A | NCBI36 |
| NG_008726.1:g.6681C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265627.10:c.94C>T MANE Select | ENSP00000265627.5:p.Arg32Ter | |
| ENST00000265627.9:c.94C>T | ENSP00000265627.5:p.Arg32Ter | |
| ENST00000418617.5:c.116C>T | ENSP00000393174.1:p.Ser39Leu | |
| ENST00000427422.5:c.94C>T | ENSP00000413276.1:p.Arg32Ter | |
| ENST00000442770.5:c.116C>T | ENSP00000390253.1:p.Ser39Leu | |
| ENST00000451904.5:c.94C>T | ENSP00000403850.1:p.Arg32Ter | |
| ENST00000456855.5:c.94C>T | ENSP00000391072.1:p.Arg32Ter | |
| ENST00000475439.1:n.282C>T | ||
| ENST00000482624.5:n.112C>T | ||
| NM_000940.2:c.94C>T | NP_000931.1:p.Arg32Ter | |
| NM_000940.3:c.94C>T MANE Select | NP_000931.1:p.Arg32Ter |