HGVS | Genome Assembly |
---|---|
NC_000003.12:g.180659470G>A , CM000665.2:g.180659470G>A | GRCh38 |
NC_000003.11:g.180377258G>A , CM000665.1:g.180377258G>A | GRCh37 |
NC_000003.10:g.181859952G>A | NCBI36 |
NG_029581.1:g.25026C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476379.6:c.720C>T MANE Select | ENSP00000417960.2:p.Asp240= | |
ENST00000650641.1:n.799C>T | ||
ENST00000650889.1:n.892C>T | ||
ENST00000651046.1:c.720C>T | ENSP00000499175.1:p.Asp240= | |
ENST00000651818.1:n.862C>T | ||
ENST00000652024.1:n.811C>T | ||
ENST00000652408.1:n.857C>T | ||
ENST00000442201.6:c.720C>T | ENSP00000405708.2:p.Asp240= | |
ENST00000476379.5:c.720C>T | ENSP00000417960.1:p.Asp240= | |
NM_181426.1:c.720C>T | NP_852091.1:p.Asp240= | |
NM_181426.2:c.720C>T MANE Select | NP_852091.1:p.Asp240= |