HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17392226G>A , CM000663.2:g.17392226G>A | GRCh38 |
NG_032943.1:g.24981G>A | |
NG_032943.2:g.24981G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000619609.1:c.1074+1G>A MANE Select | ENSP00000483125.1:n.1074+1G>A | |
NM_207421.4:c.1074+1G>A MANE Select | NP_997304.3:n.1074+1G>A |