HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161521138C>A , CM000663.2:g.161521138C>A | GRCh38 |
NC_000001.10:g.161490928C>A , CM000663.1:g.161490928C>A | GRCh37 |
NC_000001.9:g.159757552C>A | NCBI36 |
NG_012066.1:g.20724C>A | |
NG_012066.2:g.20724C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000467525.5:c.918+1425C>A | ENSP00000476495.1:n.918+1425C>A | |
ENST00000491841.1:n.425+1147C>A | ||
XM_011509287.1:c.*23+1147C>A | XP_011507589.1:n.*23+1147C>A | |
XM_011509288.1:c.*23+1147C>A | XP_011507590.1:n.*23+1147C>A | |
XM_011509289.1:c.*23+1147C>A | XP_011507591.1:n.*23+1147C>A | |
XM_011509287.2:c.*23+1147C>A | XP_011507589.1:n.*23+1147C>A | |
XM_017000664.1:c.944-2152C>A | XP_016856153.1:n.944-2152C>A | |
XM_017000665.1:c.944-2152C>A | XP_016856154.1:n.944-2152C>A | |
XR_001737042.1:n.1171+1147C>A |