HGVS | Genome Assembly |
---|---|
NC_000001.11:g.218345127G>A , CM000663.2:g.218345127G>A | GRCh38 |
NC_000001.10:g.218518469G>A , CM000663.1:g.218518469G>A | GRCh37 |
NC_000001.9:g.216585092G>A | NCBI36 |
NG_027721.1:g.4794G>A | |
NG_027721.2:g.4794G>A |
HGVS | Amino-acid Change | |
---|---|---|
NR_046268.1:n.290+48C>T |