COSMIC:
COSM3759405 (not active)
COSM3759406 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57392537 (AFR)
Genomes Max Group AF
0.56615291 (AFR)
Exomes Max Group AF
0.57819798 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151961350G>A , CM000685.2:g.151961350G>A | GRCh38 |
| NC_000023.10:g.151129822G>A , CM000685.1:g.151129822G>A | GRCh37 |
| NC_000023.9:g.150880478G>A | NCBI36 |
| NG_012511.1:g.18330C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370328.4:c.579C>T MANE Select | ENSP00000359353.3:p.Ala193= | |
| ENST00000370328.3:c.579C>T | ENSP00000359353.3:p.Ala193= | |
| ENST00000441219.5:c.*609+1073C>T | ENSP00000389384.1:n.*609+1073C>T | |
| ENST00000474932.1:n.305C>T | ||
| ENST00000476016.1:n.171+1073C>T | ||
| NM_004961.3:c.579C>T | NP_004952.2:p.Ala193= | |
| XM_006724813.2:c.579C>T | XP_006724876.2:p.Ala193= | |
| XM_011531135.1:c.240C>T | XP_011529437.1:p.Ala80= | |
| XM_011531136.1:c.240C>T | XP_011529438.1:p.Ala80= | |
| XM_011531137.1:c.579C>T | XP_011529439.1:p.Ala193= | |
| XM_011531138.1:c.579C>T | XP_011529440.1:p.Ala193= | |
| XM_011531139.1:c.579C>T | XP_011529441.1:p.Ala193= | |
| XM_017029387.2:c.144C>T | XP_016884876.1:p.Ala48= | |
| XM_017029388.1:c.67+1073C>T | XP_016884877.1:n.67+1073C>T | |
| XM_017029389.2:c.240C>T | XP_016884878.1:p.Ala80= | |
| XM_024452360.1:c.240C>T | XP_024308128.1:p.Ala80= | |
| NM_004961.4:c.579C>T MANE Select | NP_004952.2:p.Ala193= |