HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17401284A>T , CM000663.2:g.17401284A>T | GRCh38 |
NC_000001.10:g.17727780A>T , CM000663.1:g.17727780A>T | GRCh37 |
NC_000001.9:g.17600367A>T | NCBI36 |
NG_032943.1:g.34039A>T | |
NG_032943.2:g.34039A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000619609.1:c.1931A>T MANE Select | ENSP00000483125.1:p.Glu644Val | |
NM_207421.4:c.1931A>T MANE Select | NP_997304.3:p.Glu644Val |