HGVS | Genome Assembly |
---|---|
NC_000017.11:g.49363031T>C , CM000679.2:g.49363031T>C | GRCh38 |
NC_000017.10:g.47440393T>C , CM000679.1:g.47440393T>C | GRCh37 |
NC_000017.9:g.44795392T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
NR_110882.1:n.136+514T>C | ||
NR_110883.1:n.31-1248T>C | ||
NR_110884.1:n.58-1248T>C |