HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154823C>A , CM000681.2:g.55154823C>A | GRCh38 |
NC_000019.9:g.55666191C>A , CM000681.1:g.55666191C>A | GRCh37 |
NC_000019.8:g.60358003C>A | NCBI36 |
NG_007866.2:g.7910G>T , LRG_432:g.7910G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.290G>T MANE Select | ENSP00000341838.5:p.Cys97Phe | |
ENST00000665070.1:c.290G>T | ENSP00000499482.1:p.Cys97Phe | |
ENST00000344887.9:c.290G>T | ENSP00000341838.5:p.Cys97Phe | |
ENST00000585806.5:n.289G>T | ||
ENST00000586669.5:n.298G>T | ||
ENST00000587176.5:n.474G>T | ||
ENST00000587871.1:c.909G>T | ||
ENST00000588882.1:c.215G>T | ENSP00000466729.1:p.Cys72Phe | |
ENST00000590463.1:n.462G>T | ||
NM_000363.4:c.290G>T , LRG_432t1:c.290G>T | NP_000354.4:p.Cys97Phe | |
NM_000363.5:c.290G>T MANE Select | NP_000354.4:p.Cys97Phe |