HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154052A>T , CM000681.2:g.55154052A>T | GRCh38 |
NC_000019.9:g.55665420A>T , CM000681.1:g.55665420A>T | GRCh37 |
NC_000019.8:g.60357232A>T | NCBI36 |
NG_007866.2:g.8681T>A , LRG_432:g.8681T>A | |
NG_011829.2:g.187T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.527T>A MANE Select | ENSP00000341838.5:p.Val176Glu | |
ENST00000665070.1:c.560T>A | ENSP00000499482.1:p.Val187Glu | |
ENST00000344887.9:c.527T>A | ENSP00000341838.5:p.Val176Glu | |
ENST00000585806.5:n.526T>A | ||
ENST00000588882.1:c.452T>A | ENSP00000466729.1:p.Val151Glu | |
ENST00000589864.1:n.355T>A | ||
NM_000363.4:c.527T>A , LRG_432t1:c.527T>A | NP_000354.4:p.Val176Glu | |
NM_000363.5:c.527T>A MANE Select | NP_000354.4:p.Val176Glu |