HGVS | Genome Assembly |
---|---|
NC_000003.12:g.180659511A>G , CM000665.2:g.180659511A>G | GRCh38 |
NC_000003.11:g.180377299A>G , CM000665.1:g.180377299A>G | GRCh37 |
NC_000003.10:g.181859993A>G | NCBI36 |
NG_029581.1:g.24985T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476379.6:c.679T>C MANE Select | ENSP00000417960.2:p.Trp227Arg | |
ENST00000650641.1:n.758T>C | ||
ENST00000650889.1:n.851T>C | ||
ENST00000651046.1:c.679T>C | ENSP00000499175.1:p.Trp227Arg | |
ENST00000651818.1:n.821T>C | ||
ENST00000652024.1:n.770T>C | ||
ENST00000652408.1:n.816T>C | ||
ENST00000442201.6:c.679T>C | ENSP00000405708.2:p.Trp227Arg | |
ENST00000476379.5:c.679T>C | ENSP00000417960.1:p.Trp227Arg | |
NM_181426.1:c.679T>C | NP_852091.1:p.Trp227Arg | |
NM_181426.2:c.679T>C MANE Select | NP_852091.1:p.Trp227Arg |