HGVS | Genome Assembly |
---|---|
NC_000001.11:g.241847972C>A , CM000663.2:g.241847972C>A | GRCh38 |
NC_000001.10:g.242011274C>A , CM000663.1:g.242011274C>A | GRCh37 |
NC_000001.9:g.240077897C>A | NCBI36 |
NG_029100.1:g.4782C>A | |
NG_029100.2:g.4782C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000519225.5:c.-543C>A | ENSP00000429720.1:n.-543C>A | |
XM_011544322.1:c.-543C>A | XP_011542624.1:n.-543C>A |