HGVS | Genome Assembly |
---|---|
NC_000002.12:g.203866403G>A , CM000664.2:g.203866403G>A | GRCh38 |
NC_000002.11:g.204731126G>A , CM000664.1:g.204731126G>A | GRCh37 |
NC_000002.10:g.204439371G>A | NCBI36 |
NG_011502.1:g.3618G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696479.1:c.48-1515G>A | ENSP00000512655.1:n.48-1515G>A |