HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17392222C>G , CM000663.2:g.17392222C>G | GRCh38 |
NG_032943.1:g.24977C>G | |
NG_032943.2:g.24977C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000619609.1:c.1071C>G MANE Select | ENSP00000483125.1:p.Leu357= | |
NM_207421.4:c.1071C>G MANE Select | NP_997304.3:p.Leu357= |