HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17392218G>C , CM000663.2:g.17392218G>C | GRCh38 |
NG_032943.1:g.24973G>C | |
NG_032943.2:g.24973G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000619609.1:c.1067G>C MANE Select | ENSP00000483125.1:p.Trp356Ser | |
NM_207421.4:c.1067G>C MANE Select | NP_997304.3:p.Trp356Ser |