HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4654828G>A , CM000674.2:g.4654828G>A | GRCh38 |
NC_000012.11:g.4763994G>A , CM000674.1:g.4763994G>A | GRCh37 |
NC_000012.10:g.4634255G>A | NCBI36 |
NG_032124.1:g.10731G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266544.10:c.224G>A MANE Select | ENSP00000266544.5:p.Arg75His | |
ENST00000648836.1:c.224G>A | ENSP00000497305.1:p.Arg75His | |
ENST00000266544.9:c.224G>A | ENSP00000266544.5:p.Arg75His | |
ENST00000396655.6:n.234G>A | ||
ENST00000535050.1:c.290G>A | ENSP00000440305.1:p.Arg97His | |
ENST00000536588.1:c.379G>A | ||
ENST00000539573.5:n.82-2920G>A | ||
ENST00000542369.5:n.236G>A | ||
ENST00000544679.1:n.232G>A | ||
NM_005002.4:c.224G>A | NP_004993.1:p.Arg75His | |
NM_005002.5:c.224G>A MANE Select | NP_004993.1:p.Arg75His |