HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20759963T>A , CM000686.2:g.20759963T>A | GRCh38 |
NC_000024.9:g.22921849T>A , CM000686.1:g.22921849T>A | GRCh37 |
NC_000024.8:g.21331237T>A | NCBI36 |
NG_032924.1:g.8896T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000629237.2:c.177T>A MANE Select | ENSP00000486252.1:p.Asp59Glu | |
ENST00000629237.1:c.177T>A | ENSP00000486252.1:p.Asp59Glu | |
NM_001039567.2:c.177T>A | NP_001034656.1:p.Asp59Glu | |
XM_011531423.1:c.126T>A | XP_011529725.1:p.Asp42Glu | |
NM_001039567.3:c.177T>A MANE Select | NP_001034656.1:p.Asp59Glu |