HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154174A>T , CM000681.2:g.55154174A>T | GRCh38 |
NC_000019.9:g.55665542A>T , CM000681.1:g.55665542A>T | GRCh37 |
NC_000019.8:g.60357354A>T | NCBI36 |
NG_007866.2:g.8559T>A , LRG_432:g.8559T>A | |
NG_011829.2:g.65T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.405T>A MANE Select | ENSP00000341838.5:p.Leu135= | |
ENST00000665070.1:c.438T>A | ENSP00000499482.1:p.Leu146= | |
ENST00000344887.9:c.405T>A | ENSP00000341838.5:p.Leu135= | |
ENST00000585806.5:n.404T>A | ||
ENST00000586669.5:n.413T>A | ||
ENST00000588882.1:c.330T>A | ENSP00000466729.1:p.Leu110= | |
ENST00000589864.1:n.233T>A | ||
NM_000363.4:c.405T>A , LRG_432t1:c.405T>A | NP_000354.4:p.Leu135= | |
NM_000363.5:c.405T>A MANE Select | NP_000354.4:p.Leu135= |