HGVS | Genome Assembly |
---|---|
NC_000005.10:g.174724906G>A , CM000667.2:g.174724906G>A | GRCh38 |
NC_000005.9:g.174151909G>A , CM000667.1:g.174151909G>A | GRCh37 |
NC_000005.8:g.174084515G>A | NCBI36 |
NG_008124.1:g.5335G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000239243.7:c.247G>A MANE Select | ENSP00000239243.5:p.Gly83Arg | |
ENST00000239243.6:c.247G>A | ENSP00000239243.5:p.Gly83Arg | |
ENST00000507785.2:c.247G>A | ENSP00000427425.1:p.Gly83Arg | |
NM_002449.4:c.247G>A | NP_002440.2:p.Gly83Arg | |
NM_001363626.1:c.247G>A | NP_001350555.1:p.Gly83Arg | |
NM_002449.5:c.247G>A MANE Select | NP_002440.2:p.Gly83Arg | |
NM_001363626.2:c.247G>A | NP_001350555.1:p.Gly83Arg |