HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154119T>A , CM000681.2:g.55154119T>A | GRCh38 |
NC_000019.9:g.55665487T>A , CM000681.1:g.55665487T>A | GRCh37 |
NC_000019.8:g.60357299T>A | NCBI36 |
NG_007866.2:g.8614A>T , LRG_432:g.8614A>T | |
NG_011829.2:g.120A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.460A>T MANE Select | ENSP00000341838.5:p.Met154Leu | |
ENST00000665070.1:c.493A>T | ENSP00000499482.1:p.Met165Leu | |
ENST00000344887.9:c.460A>T | ENSP00000341838.5:p.Met154Leu | |
ENST00000585806.5:n.459A>T | ||
ENST00000586669.5:n.468A>T | ||
ENST00000588882.1:c.385A>T | ENSP00000466729.1:p.Met129Leu | |
ENST00000589864.1:n.288A>T | ||
NM_000363.4:c.460A>T , LRG_432t1:c.460A>T | NP_000354.4:p.Met154Leu | |
NM_000363.5:c.460A>T MANE Select | NP_000354.4:p.Met154Leu |