HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159315974G>T , CM000667.2:g.159315974G>T | GRCh38 |
NC_000005.9:g.158742982G>T , CM000667.1:g.158742982G>T | GRCh37 |
NC_000005.8:g.158675560G>T | NCBI36 |
NG_009618.1:g.19500C>A , LRG_71:g.19500C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.*127C>A | ENSP00000512849.1:n.*127C>A | |
ENST00000696751.1:c.*609C>A | ENSP00000512850.1:n.*609C>A | |
ENST00000231228.3:c.*127C>A MANE Select | ENSP00000231228.2:n.*127C>A | |
ENST00000231228.2:c.*127C>A | ENSP00000231228.2:n.*127C>A | |
NM_002187.2:c.*127C>A , LRG_71t1:c.*127C>A | NP_002178.2:n.*127C>A | |
NM_002187.3:c.*127C>A MANE Select | NP_002178.2:n.*127C>A |