HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122461665C>T , CM000672.2:g.122461665C>T | GRCh38 |
NC_000010.10:g.124221181C>T , CM000672.1:g.124221181C>T | GRCh37 |
NC_000010.9:g.124211171C>T | NCBI36 |
NG_011554.1:g.5141C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.13C>T MANE Select | ENSP00000357980.3:p.Arg5Cys | |
ENST00000648167.1:c.154+2956C>T | ENSP00000498033.1:n.154+2956C>T | |
ENST00000368984.7:c.13C>T | ENSP00000357980.3:p.Arg5Cys | |
NM_002775.4:c.13C>T | NP_002766.1:p.Arg5Cys | |
NM_002775.5:c.13C>T MANE Select | NP_002766.1:p.Arg5Cys |