COSMIC:
COSM4160858 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68418313 (EAS)
Genomes Max Group AF
0.63196086 (SAS)
Exomes Max Group AF
0.69764266 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31829810C>G , CM000668.2:g.31829810C>G | GRCh38 |
| NC_000006.11:g.31797587C>G , CM000668.1:g.31797587C>G | GRCh37 |
| NC_000006.10:g.31905566C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375650.5:c.1860C>G MANE Select | ENSP00000364801.3:p.Gly620= | |
| ENST00000375650.4:c.1860C>G | ENSP00000364801.3:p.Gly620= | |
| NM_005346.4:c.1860C>G | NP_005337.2:p.Gly620= | |
| NM_005346.5:c.1860C>G | NP_005337.2:p.Gly620= | |
| NM_005346.6:c.1860C>G MANE Select | NP_005337.2:p.Gly620= |