HGVS | Genome Assembly |
---|---|
NC_000023.11:g.101346647T>A , CM000685.2:g.101346647T>A | GRCh38 |
NC_000023.10:g.100601635T>A , CM000685.1:g.100601635T>A | GRCh37 |
NC_000023.9:g.100488291T>A | NCBI36 |
NG_011734.1:g.7323A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372902.4:c.146A>T MANE Select | ENSP00000361993.3:p.Asp49Val | |
ENST00000644112.2:c.*1740A>T | ENSP00000494385.1:n.*1740A>T | |
ENST00000645279.1:c.*340A>T | ENSP00000494239.1:n.*340A>T | |
ENST00000647480.1:n.663A>T | ||
ENST00000372902.3:c.146A>T | ENSP00000361993.3:p.Asp49Val | |
NM_004085.3:c.146A>T | NP_004076.1:p.Asp49Val | |
NM_004085.4:c.146A>T MANE Select | NP_004076.1:p.Asp49Val | |
NM_001145951.2:c.*1740A>T | NP_001139423.1:n.*1740A>T |