HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154096G>T , CM000681.2:g.55154096G>T | GRCh38 |
NC_000019.9:g.55665464G>T , CM000681.1:g.55665464G>T | GRCh37 |
NC_000019.8:g.60357276G>T | NCBI36 |
NG_007866.2:g.8637C>A , LRG_432:g.8637C>A | |
NG_011829.2:g.143C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.483C>A MANE Select | ENSP00000341838.5:p.Ala161= | |
ENST00000665070.1:c.516C>A | ENSP00000499482.1:p.Ala172= | |
ENST00000344887.9:c.483C>A | ENSP00000341838.5:p.Ala161= | |
ENST00000585806.5:n.482C>A | ||
ENST00000588882.1:c.408C>A | ENSP00000466729.1:p.Ala136= | |
ENST00000589864.1:n.311C>A | ||
NM_000363.4:c.483C>A , LRG_432t1:c.483C>A | NP_000354.4:p.Ala161= | |
NM_000363.5:c.483C>A MANE Select | NP_000354.4:p.Ala161= |