HGVS | Genome Assembly |
---|---|
NC_000016.10:g.8797812C>G , CM000678.2:g.8797812C>G | GRCh38 |
NC_000016.9:g.8891669C>G , CM000678.1:g.8891669C>G | GRCh37 |
NC_000016.8:g.8799170C>G | NCBI36 |
NG_009209.1:g.5000C>G | |
NG_033146.1:g.4837G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682008.1:c.-71C>G | ENSP00000507849.1:n.-71C>G | |
ENST00000683435.1:c.-71C>G | ENSP00000508092.1:n.-71C>G | |
ENST00000566983.5:c.-15-3987C>G | ENSP00000457956.1:n.-15-3987C>G |