COSMIC:
COSM148507 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69307953 (AFR)
Genomes Max Group AF
0.68632174 (AFR)
Exomes Max Group AF
0.69682644 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10489766G>C , CM000681.2:g.10489766G>C | GRCh38 |
| NC_000019.9:g.10600442G>C , CM000681.1:g.10600442G>C | GRCh37 |
| NC_000019.8:g.10461442G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000171111.10:c.1413C>G MANE Select | ENSP00000171111.4:p.Leu471= | |
| ENST00000171111.9:c.1413C>G | ENSP00000171111.4:p.Leu471= | |
| ENST00000393623.6:c.1413C>G | ENSP00000377245.1:p.Leu471= | |
| ENST00000590593.1:c.305-398C>G | ||
| ENST00000592478.5:c.232C>G | ||
| NM_012289.3:c.1413C>G | NP_036421.2:p.Leu471= | |
| NM_203500.1:c.1413C>G | NP_987096.1:p.Leu471= | |
| XM_005260173.1:c.1413C>G | XP_005260230.1:p.Leu471= | |
| XM_005260174.1:c.1413C>G | XP_005260231.1:p.Leu471= | |
| XM_011528452.1:c.1413C>G | XP_011526754.1:p.Leu471= | |
| NM_203500.2:c.1413C>G MANE Select | NP_987096.1:p.Leu471= | |
| NM_012289.4:c.1413C>G | NP_036421.2:p.Leu471= |