COSMIC:
COSM3752217 (not active)
Revel Score:
ENST00000278919 (MANE Select)
0.019
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21629697 (AFR)
Genomes Max Group AF
0.21409373 (AFR)
Exomes Max Group AF
0.21644973 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.125481576A>T , CM000673.2:g.125481576A>T | GRCh38 |
| NC_000011.9:g.125351472A>T , CM000673.1:g.125351472A>T | GRCh37 |
| NC_000011.8:g.124856682A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278919.8:c.369T>A MANE Select | ENSP00000278919.3:p.Asp123Glu | |
| ENST00000648911.1:c.369T>A | ENSP00000497070.1:p.Asp123Glu | |
| ENST00000278919.7:c.369T>A | ENSP00000278919.3:p.Asp123Glu | |
| ENST00000392709.8:n.611T>A | ||
| ENST00000527350.5:n.22T>A | ||
| ENST00000532981.1:n.512T>A | ||
| ENST00000533294.1:n.181T>A | ||
| ENST00000577924.1:c.58T>A | ||
| NM_005103.4:c.369T>A | NP_005094.1:p.Asp123Glu | |
| XM_005271734.2:c.369T>A | XP_005271791.1:p.Asp123Glu | |
| XM_005271735.2:c.369T>A | XP_005271792.1:p.Asp123Glu | |
| XM_011543071.1:c.369T>A | XP_011541373.1:p.Asp123Glu | |
| NM_005103.5:c.369T>A MANE Select | NP_005094.1:p.Asp123Glu |