HGVS | Genome Assembly |
---|---|
NC_000001.11:g.218345136T>C , CM000663.2:g.218345136T>C | GRCh38 |
NC_000001.10:g.218518478T>C , CM000663.1:g.218518478T>C | GRCh37 |
NC_000001.9:g.216585101T>C | NCBI36 |
NG_027721.1:g.4803T>C | |
NG_027721.2:g.4803T>C |
HGVS | Amino-acid Change | |
---|---|---|
NR_046268.1:n.290+39A>G |