HGVS | Genome Assembly |
---|---|
NC_000007.14:g.100722313G>A , CM000669.2:g.100722313G>A | GRCh38 |
NC_000007.13:g.100319936G>A , CM000669.1:g.100319936G>A | GRCh37 |
NC_000007.12:g.100157872G>A | NCBI36 |
NG_021471.1:g.6514G>A | |
NG_021471.2:g.6514G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252723.3:c.246+265G>A MANE Select | ENSP00000252723.2:n.246+265G>A | |
ENST00000252723.2:c.246+265G>A | ENSP00000252723.2:n.246+265G>A | |
NM_000799.2:c.246+265G>A | NP_000790.2:n.246+265G>A | |
NM_000799.3:c.246+265G>A | NP_000790.2:n.246+265G>A | |
NM_000799.4:c.246+265G>A MANE Select | NP_000790.2:n.246+265G>A |