HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154103A>T , CM000681.2:g.55154103A>T | GRCh38 |
NC_000019.9:g.55665471A>T , CM000681.1:g.55665471A>T | GRCh37 |
NC_000019.8:g.60357283A>T | NCBI36 |
NG_007866.2:g.8630T>A , LRG_432:g.8630T>A | |
NG_011829.2:g.136T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.476T>A MANE Select | ENSP00000341838.5:p.Leu159Gln | |
ENST00000665070.1:c.509T>A | ENSP00000499482.1:p.Leu170Gln | |
ENST00000344887.9:c.476T>A | ENSP00000341838.5:p.Leu159Gln | |
ENST00000585806.5:n.475T>A | ||
ENST00000588882.1:c.401T>A | ENSP00000466729.1:p.Leu134Gln | |
ENST00000589864.1:n.304T>A | ||
NM_000363.4:c.476T>A , LRG_432t1:c.476T>A | NP_000354.4:p.Leu159Gln | |
NM_000363.5:c.476T>A MANE Select | NP_000354.4:p.Leu159Gln |