HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58576875C>T , CM000663.2:g.58576875C>T | GRCh38 |
NC_000001.10:g.59042547C>T , CM000663.1:g.59042547C>T | GRCh37 |
NC_000001.9:g.58815135C>T | NCBI36 |
NG_016237.1:g.5620G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371225.4:c.282G>A MANE Select | ENSP00000360269.2:p.Glu94= | |
ENST00000371225.3:c.282G>A | ENSP00000360269.2:p.Glu94= | |
NM_002353.2:c.282G>A | NP_002344.2:p.Glu94= | |
NM_002353.3:c.282G>A MANE Select | NP_002344.2:p.Glu94= |