HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154742T>A , CM000681.2:g.55154742T>A | GRCh38 |
NC_000019.9:g.55666110T>A , CM000681.1:g.55666110T>A | GRCh37 |
NC_000019.8:g.60357922T>A | NCBI36 |
NG_007866.2:g.7991A>T , LRG_432:g.7991A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.371A>T MANE Select | ENSP00000341838.5:p.Glu124Val | |
ENST00000665070.1:c.371A>T | ENSP00000499482.1:p.Glu124Val | |
ENST00000344887.9:c.371A>T | ENSP00000341838.5:p.Glu124Val | |
ENST00000585806.5:n.370A>T | ||
ENST00000586669.5:n.379A>T | ||
ENST00000587176.5:n.555A>T | ||
ENST00000588882.1:c.296A>T | ENSP00000466729.1:p.Glu99Val | |
NM_000363.4:c.371A>T , LRG_432t1:c.371A>T | NP_000354.4:p.Glu124Val | |
NM_000363.5:c.371A>T MANE Select | NP_000354.4:p.Glu124Val |