COSMIC:
COSN26731574 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41066004 (AFR)
Genomes Max Group AF
0.40112301 (AFR)
Exomes Max Group AF
0.41914976 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46599326G>A , CM000683.2:g.46599326G>A | GRCh38 |
| NC_000021.8:g.48019239G>A , CM000683.1:g.48019239G>A | GRCh37 |
| NC_000021.7:g.46843667G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291700.9:c.*37C>T MANE Select | ENSP00000291700.4:n.*37C>T | |
| ENST00000291700.8:c.*37C>T | ENSP00000291700.4:n.*37C>T | |
| ENST00000367071.4:c.*125C>T | ENSP00000356038.4:n.*125C>T | |
| ENST00000397648.1:c.*37C>T | ENSP00000380769.1:n.*37C>T | |
| NM_006272.2:c.*37C>T | NP_006263.1:n.*37C>T | |
| XM_017028424.2:c.*37C>T | XP_016883913.1:n.*37C>T | |
| NM_006272.3:c.*37C>T MANE Select | NP_006263.1:n.*37C>T |