HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154830C>A , CM000681.2:g.55154830C>A | GRCh38 |
NC_000019.9:g.55666198C>A , CM000681.1:g.55666198C>A | GRCh37 |
NC_000019.8:g.60358010C>A | NCBI36 |
NG_007866.2:g.7903G>T , LRG_432:g.7903G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.283G>T MANE Select | ENSP00000341838.5:p.Asp95Tyr | |
ENST00000665070.1:c.283G>T | ENSP00000499482.1:p.Asp95Tyr | |
ENST00000344887.9:c.283G>T | ENSP00000341838.5:p.Asp95Tyr | |
ENST00000585806.5:n.282G>T | ||
ENST00000586669.5:n.291G>T | ||
ENST00000587176.5:n.467G>T | ||
ENST00000587871.1:c.902G>T | ||
ENST00000588882.1:c.208G>T | ENSP00000466729.1:p.Asp70Tyr | |
ENST00000590463.1:n.455G>T | ||
NM_000363.4:c.283G>T , LRG_432t1:c.283G>T | NP_000354.4:p.Asp95Tyr | |
NM_000363.5:c.283G>T MANE Select | NP_000354.4:p.Asp95Tyr |