HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218882277G>A , CM000664.2:g.218882277G>A | GRCh38 |
NC_000002.11:g.219746999G>A , CM000664.1:g.219746999G>A | GRCh37 |
NC_000002.10:g.219455243G>A | NCBI36 |
NG_012179.1:g.6745G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258411.8:c.230G>A MANE Select | ENSP00000258411.3:p.Arg77His | |
ENST00000258411.7:c.230G>A | ENSP00000258411.3:p.Arg77His | |
ENST00000458582.1:c.117G>A | ||
NM_025216.2:c.230G>A | NP_079492.2:p.Arg77His | |
XM_011511928.1:c.179G>A | XP_011510230.1:p.Arg60His | |
XM_011511929.1:c.134G>A | XP_011510231.1:p.Arg45His | |
XM_011511930.1:c.230G>A | XP_011510232.1:p.Arg77His | |
XM_011511929.2:c.134G>A | XP_011510231.1:p.Arg45His | |
NM_025216.3:c.230G>A MANE Select | NP_079492.2:p.Arg77His |