HGVS | Genome Assembly |
---|---|
NC_000001.11:g.26696566G>A , CM000663.2:g.26696566G>A | GRCh38 |
NC_000001.10:g.27023057G>A , CM000663.1:g.27023057G>A | GRCh37 |
NC_000001.9:g.26895644G>A | NCBI36 |
NG_029965.1:g.5536G>A , LRG_875:g.5536G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000324856.13:c.163G>A MANE Select | ENSP00000320485.7:p.Gly55Arg | |
ENST00000430799.7:c.-13+2949G>A | ENSP00000390317.3:n.-13+2949G>A | |
ENST00000637465.1:c.-13+466G>A | ENSP00000490650.1:n.-13+466G>A | |
ENST00000324856.11:c.163G>A | ENSP00000320485.7:p.Gly55Arg | |
ENST00000457599.6:c.163G>A | ENSP00000387636.2:p.Gly55Arg | |
NM_006015.4:c.163G>A , LRG_875t1:c.163G>A | NP_006006.3:p.Gly55Arg | |
NM_139135.2:c.163G>A | NP_624361.1:p.Gly55Arg | |
NM_006015.5:c.163G>A | NP_006006.3:p.Gly55Arg | |
NM_139135.3:c.163G>A | NP_624361.1:p.Gly55Arg | |
NM_006015.6:c.163G>A MANE Select | NP_006006.3:p.Gly55Arg | |
NM_139135.4:c.163G>A | NP_624361.1:p.Gly55Arg |