HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154117C>T , CM000681.2:g.55154117C>T | GRCh38 |
NC_000019.9:g.55665485C>T , CM000681.1:g.55665485C>T | GRCh37 |
NC_000019.8:g.60357297C>T | NCBI36 |
NG_007866.2:g.8616G>A , LRG_432:g.8616G>A | |
NG_011829.2:g.122G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.462G>A MANE Select | ENSP00000341838.5:p.Met154Ile | |
ENST00000665070.1:c.495G>A | ENSP00000499482.1:p.Met165Ile | |
ENST00000344887.9:c.462G>A | ENSP00000341838.5:p.Met154Ile | |
ENST00000585806.5:n.461G>A | ||
ENST00000586669.5:n.470G>A | ||
ENST00000588882.1:c.387G>A | ENSP00000466729.1:p.Met129Ile | |
ENST00000589864.1:n.290G>A | ||
NM_000363.4:c.462G>A , LRG_432t1:c.462G>A | NP_000354.4:p.Met154Ile | |
NM_000363.5:c.462G>A MANE Select | NP_000354.4:p.Met154Ile |