HGVS | Genome Assembly |
---|---|
NC_000005.10:g.151892356C>T , CM000667.2:g.151892356C>T | GRCh38 |
NC_000005.9:g.151271917C>T , CM000667.1:g.151271917C>T | GRCh37 |
NC_000005.8:g.151252110C>T | NCBI36 |
NG_011764.1:g.37481G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274576.9:c.139G>A MANE Select | ENSP00000274576.5:p.Gly47Arg | |
ENST00000274576.8:c.139G>A | ENSP00000274576.4:p.Gly47Arg | |
ENST00000455880.2:c.139G>A | ENSP00000411593.2:p.Gly47Arg | |
ENST00000462581.6:c.57-5568G>A | ENSP00000430595.1:n.57-5568G>A | |
ENST00000471351.2:n.422G>A | ||
NM_000171.3:c.139G>A | NP_000162.2:p.Gly47Arg | |
NM_001146040.1:c.139G>A | NP_001139512.1:p.Gly47Arg | |
NM_001292000.1:c.-65-5568G>A | NP_001278929.1:n.-65-5568G>A | |
XM_005268412.2:c.139G>A | XP_005268469.1:p.Gly47Arg | |
XR_002956230.1:n.3260C>T | ||
NM_000171.4:c.139G>A MANE Select | NP_000162.2:p.Gly47Arg | |
NM_001146040.2:c.139G>A | NP_001139512.1:p.Gly47Arg | |
NM_001292000.2:c.-65-5568G>A | NP_001278929.1:n.-65-5568G>A |