HGVS | Genome Assembly |
---|---|
NC_000002.12:g.203866316G>A , CM000664.2:g.203866316G>A | GRCh38 |
NC_000002.11:g.204731039G>A , CM000664.1:g.204731039G>A | GRCh37 |
NC_000002.10:g.204439284G>A | NCBI36 |
NG_011502.1:g.3531G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696479.1:c.48-1602G>A | ENSP00000512655.1:n.48-1602G>A |