COSMIC:
COSM3754351 (not active)
Revel Score:
ENST00000267845 (MANE Select)
0.093
ENST00000543581
0.093
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13549453 (AFR)
Genomes Max Group AF
0.13340828 (AFR)
Exomes Max Group AF
0.13603889 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50242317T>G , CM000677.2:g.50242317T>G | GRCh38 |
| NC_000015.9:g.50534514T>G , CM000677.1:g.50534514T>G | GRCh37 |
| NC_000015.8:g.48321806T>G | NCBI36 |
| NG_027487.1:g.28649A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267845.8:c.1932A>C MANE Select | ENSP00000267845.3:p.Glu644Asp | |
| ENST00000267845.7:c.1932A>C | ENSP00000267845.3:p.Glu644Asp | |
| ENST00000543581.5:c.1833A>C | ENSP00000440252.1:p.Glu611Asp | |
| ENST00000559816.1:n.1676A>C | ||
| NM_001306146.1:c.1833A>C | NP_001293075.1:p.Glu611Asp | |
| NM_002112.3:c.1932A>C | NP_002103.2:p.Glu644Asp | |
| XM_011521479.1:c.1695A>C | XP_011519781.1:p.Glu565Asp | |
| XM_011521480.1:c.1500A>C | XP_011519782.1:p.Glu500Asp | |
| XM_017022094.1:c.2037A>C | XP_016877583.1:p.Glu679Asp | |
| XM_017022095.1:c.1938A>C | XP_016877584.1:p.Glu646Asp | |
| XM_017022096.1:c.1809A>C | XP_016877585.1:p.Glu603Asp | |
| XM_017022097.1:c.1800A>C | XP_016877586.1:p.Glu600Asp | |
| XM_017022098.1:c.1605A>C | XP_016877587.1:p.Glu535Asp | |
| NM_002112.4:c.1932A>C MANE Select | NP_002103.2:p.Glu644Asp | |
| NM_001306146.2:c.1833A>C | NP_001293075.1:p.Glu611Asp |