HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5044691G>A , CM000674.2:g.5044691G>A | GRCh38 |
NC_000012.11:g.5153857G>A , CM000674.1:g.5153857G>A | GRCh37 |
NC_000012.10:g.5024118G>A | NCBI36 |
NG_012198.1:g.5773G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252321.5:c.544G>A MANE Select | ENSP00000252321.3:p.Gly182Arg | |
ENST00000252321.4:c.544G>A | ENSP00000252321.3:p.Gly182Arg | |
NM_002234.3:c.544G>A | NP_002225.2:p.Gly182Arg | |
NM_002234.4:c.544G>A MANE Select | NP_002225.2:p.Gly182Arg |