COSMIC:
COSM4986874 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11787392 (EAS)
Genomes Max Group AF
0.10165593 (EAS)
Exomes Max Group AF
0.11917838 (EAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19962213C>G , CM000670.2:g.19962213C>G | GRCh38 |
| NC_000008.10:g.19819724C>G , CM000670.1:g.19819724C>G | GRCh37 |
| NC_000008.9:g.19864004C>G | NCBI36 |
| NG_008855.1:g.28143C>G | |
| NG_008855.2:g.65497C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1421C>G MANE Select | ENSP00000497642.1:p.Ser474Ter | |
| ENST00000650478.1:c.361C>G | ENSP00000497560.1:n.361C>G | |
| ENST00000311322.8:c.1421C>G | ENSP00000309757.6:p.Ser474Ter | |
| NM_000237.2:c.1421C>G | NP_000228.1:p.Ser474Ter | |
| NM_000237.3:c.1421C>G MANE Select | NP_000228.1:p.Ser474Ter |