COSMIC:
COSM1413000 (not active)
Revel Score:
ENST00000343916
0.235
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41021519 (AFR)
Genomes Max Group AF
0.4016221 (AFR)
Exomes Max Group AF
0.41737195 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62832170C>A , CM000682.2:g.62832170C>A | GRCh38 |
| NC_000020.10:g.61463522C>A , CM000682.1:g.61463522C>A | GRCh37 |
| NC_000020.9:g.60933967C>A | NCBI36 |
| NG_016353.1:g.20109C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649368.1:c.1304C>A MANE Select | ENSP00000496793.1:p.Ala435Glu | |
| ENST00000343916.7:c.1304C>A | ENSP00000341640.3:p.Ala435Glu | |
| ENST00000466192.5:n.1031C>A | ||
| ENST00000469852.5:n.600C>A | ||
| ENST00000481800.1:n.277C>A | ||
| ENST00000490398.5:n.101C>A | ||
| NM_001853.3:c.1304C>A | NP_001844.3:p.Ala435Glu | |
| XM_011528543.1:c.1304C>A | XP_011526845.1:p.Ala435Glu | |
| XM_011528544.1:c.1097C>A | XP_011526846.1:p.Ala366Glu | |
| XM_011528545.1:c.1304C>A | XP_011526847.1:p.Ala435Glu | |
| XM_011528546.1:c.1304C>A | XP_011526848.1:p.Ala435Glu | |
| XM_011528547.1:c.1304C>A | XP_011526849.1:p.Ala435Glu | |
| XR_936499.1:n.1305C>A | ||
| NM_001853.4:c.1304C>A MANE Select | NP_001844.3:p.Ala435Glu | |
| XM_017027666.1:c.1304C>A | XP_016883155.1:p.Ala435Glu |