HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218270459G>A , CM000664.2:g.218270459G>A | GRCh38 |
NC_000002.11:g.219135182G>A , CM000664.1:g.219135182G>A | GRCh37 |
NC_000002.10:g.218843426G>A | NCBI36 |
NG_017060.1:g.5068G>A | |
NG_033036.1:g.4712C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000691799.1:n.70+739G>A | ||
ENST00000248451.7:c.-77G>A | ENSP00000248451.3:n.-77G>A | |
NM_001077399.2:c.-77G>A | NP_001070867.1:n.-77G>A | |
NM_015488.4:c.-77G>A | NP_056303.3:n.-77G>A |