COSMIC:
COSM4142166 (not active)
Revel Score:
ENST00000369626 (MANE Select)
0.035
ENST00000538576
0.035
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.85535626 (AFR)
Genomes Max Group AF
0.84902995 (AFR)
Exomes Max Group AF
0.85806849 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112913924A>T , CM000663.2:g.112913924A>T | GRCh38 |
| NC_000001.10:g.113456546A>T , CM000663.1:g.113456546A>T | GRCh37 |
| NC_000001.9:g.113258069A>T | NCBI36 |
| NG_015880.2:g.47005T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369626.8:c.1470T>A MANE Select | ENSP00000358640.4:p.Asp490Glu | |
| ENST00000429288.2:c.1470T>A | ENSP00000397106.2:p.Asp490Glu | |
| ENST00000443580.6:c.1470T>A | ENSP00000399104.2:p.Asp490Glu | |
| ENST00000458229.6:c.1470T>A | ENSP00000416167.2:p.Asp490Glu | |
| ENST00000679803.1:c.1470T>A | ENSP00000505879.1:p.Asp490Glu | |
| ENST00000369626.7:c.1470T>A | ENSP00000358640.3:p.Asp490Glu | |
| ENST00000538576.5:c.1470T>A | ENSP00000441065.1:p.Asp490Glu | |
| NM_001166496.1:c.1470T>A | NP_001159968.1:p.Asp490Glu | |
| NM_003051.3:c.1470T>A | NP_003042.3:p.Asp490Glu | |
| XM_011542026.1:c.1470T>A | XP_011540328.1:p.Asp490Glu | |
| XM_011542027.1:c.1470T>A | XP_011540329.1:p.Asp490Glu | |
| NM_003051.4:c.1470T>A MANE Select | NP_003042.3:p.Asp490Glu | |
| NM_001166496.2:c.1470T>A | NP_001159968.1:p.Asp490Glu |