HGVS | Genome Assembly |
---|---|
NC_000016.10:g.8797652C>G , CM000678.2:g.8797652C>G | GRCh38 |
NC_000016.9:g.8891509C>G , CM000678.1:g.8891509C>G | GRCh37 |
NC_000016.8:g.8799010C>G | NCBI36 |
NG_009209.1:g.4840C>G | |
NG_033146.1:g.4997G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000566983.5:c.-15-4147C>G | ENSP00000457956.1:n.-15-4147C>G |