HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17392137T>G , CM000663.2:g.17392137T>G | GRCh38 |
NG_032943.1:g.24892T>G | |
NG_032943.2:g.24892T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000619609.1:c.986T>G MANE Select | ENSP00000483125.1:p.Val329Gly | |
NM_207421.4:c.986T>G MANE Select | NP_997304.3:p.Val329Gly |