COSMIC:
COSN6505407 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5469308 (AMR)
Genomes Max Group AF
0.53813526 (AMR)
Exomes Max Group AF
0.55105238 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12207208A>G , CM000663.2:g.12207208A>G | GRCh38 |
| NC_000001.10:g.12267265A>G , CM000663.1:g.12267265A>G | GRCh37 |
| NC_000001.9:g.12189852A>G | NCBI36 |
| NG_029791.1:g.45206A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376259.7:c.*188A>G MANE Select | ENSP00000365435.3:n.*188A>G | |
| ENST00000376259.6:c.*188A>G | ENSP00000365435.3:n.*188A>G | |
| ENST00000492361.1:n.1563A>G | ||
| NM_001066.2:c.*188A>G | NP_001057.1:n.*188A>G | |
| XM_011542060.1:c.*188A>G | XP_011540362.1:n.*188A>G | |
| XM_011542061.1:c.*188A>G | XP_011540363.1:n.*188A>G | |
| XM_011542062.1:c.1622A>G | XP_011540364.1:n.1622A>G | |
| XM_011542063.1:c.*188A>G | XP_011540365.1:n.*188A>G | |
| XM_011542060.2:c.*188A>G | XP_011540362.1:n.*188A>G | |
| XM_011542063.2:c.*188A>G | XP_011540365.1:n.*188A>G | |
| XM_017002214.1:c.*188A>G | XP_016857703.1:n.*188A>G | |
| XM_017002215.1:c.*188A>G | XP_016857704.1:n.*188A>G | |
| NM_001066.3:c.*188A>G MANE Select | NP_001057.1:n.*188A>G |