HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55151779G>T , CM000681.2:g.55151779G>T | GRCh38 |
NC_000019.9:g.55663147G>T , CM000681.1:g.55663147G>T | GRCh37 |
NC_000019.8:g.60354959G>T | NCBI36 |
NG_007866.2:g.10954C>A , LRG_432:g.10954C>A | |
NG_011829.2:g.2460C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.*55C>A MANE Select | ENSP00000341838.5:n.*55C>A | |
ENST00000665070.1:c.*55C>A | ENSP00000499482.1:n.*55C>A | |
ENST00000344887.9:c.*55C>A | ENSP00000341838.5:n.*55C>A | |
ENST00000585806.5:n.687C>A | ||
ENST00000588882.1:c.*55C>A | ENSP00000466729.1:n.*55C>A | |
ENST00000589864.1:n.516C>A | ||
NM_000363.4:c.*55C>A , LRG_432t1:c.*55C>A | NP_000354.4:n.*55C>A | |
NM_000363.5:c.*55C>A MANE Select | NP_000354.4:n.*55C>A |