COSMIC:
COSN14790364 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95287707 (AFR)
Genomes Max Group AF
0.95287482 (AFR)
Exomes Max Group AF
0.59988219 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134440465T>G , CM000671.2:g.134440465T>G | GRCh38 |
| NC_000009.11:g.137332311T>G , CM000671.1:g.137332311T>G | GRCh37 |
| NC_000009.10:g.136472132T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.*3851T>G MANE Select | ENSP00000419692.1:n.*3851T>G | |
| ENST00000356384.4:n.5650T>G | ||
| NM_001291920.1:c.*3851T>G | NP_001278849.1:n.*3851T>G | |
| NM_001291921.1:c.*3851T>G | NP_001278850.1:n.*3851T>G | |
| NM_002957.5:c.*3851T>G | NP_002948.1:n.*3851T>G | |
| NM_002957.6:c.*3851T>G MANE Select | NP_002948.1:n.*3851T>G | |
| NM_001291921.2:c.*3851T>G | NP_001278850.1:n.*3851T>G | |
| NM_001291920.2:c.*3851T>G | NP_001278849.1:n.*3851T>G |