COSMIC:
COSM4157371 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16832889 (AFR)
Genomes Max Group AF
0.1681128 (AFR)
Exomes Max Group AF
0.16632265 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.152835839C>T , CM000665.2:g.152835839C>T | GRCh38 |
| NC_000003.11:g.152553628C>T , CM000665.1:g.152553628C>T | GRCh37 |
| NC_000003.10:g.154036318C>T | NCBI36 |
| NG_032896.2:g.5893C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305097.6:c.57C>T MANE Select | ENSP00000304767.3:p.Ala19= | |
| ENST00000305097.5:c.57C>T | ENSP00000304767.3:p.Ala19= | |
| NM_002563.3:c.57C>T | NP_002554.1:p.Ala19= | |
| NM_002563.4:c.57C>T | NP_002554.1:p.Ala19= | |
| NM_002563.5:c.57C>T MANE Select | NP_002554.1:p.Ala19= |