HGVS | Genome Assembly |
---|---|
NC_000016.10:g.8797676G>C , CM000678.2:g.8797676G>C | GRCh38 |
NC_000016.9:g.8891533G>C , CM000678.1:g.8891533G>C | GRCh37 |
NC_000016.8:g.8799034G>C | NCBI36 |
NG_009209.1:g.4864G>C | |
NG_033146.1:g.4973C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000566983.5:c.-15-4123G>C | ENSP00000457956.1:n.-15-4123G>C |