HGVS | Genome Assembly |
---|---|
NC_000003.12:g.180659521G>A , CM000665.2:g.180659521G>A | GRCh38 |
NC_000003.11:g.180377309G>A , CM000665.1:g.180377309G>A | GRCh37 |
NC_000003.10:g.181860003G>A | NCBI36 |
NG_029581.1:g.24975C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476379.6:c.669C>T MANE Select | ENSP00000417960.2:p.Leu223= | |
ENST00000650641.1:n.748C>T | ||
ENST00000650889.1:n.841C>T | ||
ENST00000651046.1:c.669C>T | ENSP00000499175.1:p.Leu223= | |
ENST00000651818.1:n.811C>T | ||
ENST00000652024.1:n.760C>T | ||
ENST00000652408.1:n.806C>T | ||
ENST00000442201.6:c.669C>T | ENSP00000405708.2:p.Leu223= | |
ENST00000476379.5:c.669C>T | ENSP00000417960.1:p.Leu223= | |
NM_181426.1:c.669C>T | NP_852091.1:p.Leu223= | |
NM_181426.2:c.669C>T MANE Select | NP_852091.1:p.Leu223= |