HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154110C>T , CM000681.2:g.55154110C>T | GRCh38 |
NC_000019.9:g.55665478C>T , CM000681.1:g.55665478C>T | GRCh37 |
NC_000019.8:g.60357290C>T | NCBI36 |
NG_007866.2:g.8623G>A , LRG_432:g.8623G>A | |
NG_011829.2:g.129G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.469G>A MANE Select | ENSP00000341838.5:p.Ala157Thr | |
ENST00000665070.1:c.502G>A | ENSP00000499482.1:p.Ala168Thr | |
ENST00000344887.9:c.469G>A | ENSP00000341838.5:p.Ala157Thr | |
ENST00000585806.5:n.468G>A | ||
ENST00000586669.5:n.477G>A | ||
ENST00000588882.1:c.394G>A | ENSP00000466729.1:p.Ala132Thr | |
ENST00000589864.1:n.297G>A | ||
NM_000363.4:c.469G>A , LRG_432t1:c.469G>A | NP_000354.4:p.Ala157Thr | |
NM_000363.5:c.469G>A MANE Select | NP_000354.4:p.Ala157Thr |