HGVS | Genome Assembly |
---|---|
NC_000016.10:g.8797757G>A , CM000678.2:g.8797757G>A | GRCh38 |
NC_000016.9:g.8891614G>A , CM000678.1:g.8891614G>A | GRCh37 |
NC_000016.8:g.8799115G>A | NCBI36 |
NG_009209.1:g.4945G>A | |
NG_033146.1:g.4892C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682008.1:c.-126G>A | ENSP00000507849.1:n.-126G>A | |
ENST00000566983.5:c.-15-4042G>A | ENSP00000457956.1:n.-15-4042G>A |