HGVS | Genome Assembly |
---|---|
NC_000003.12:g.180659549C>G , CM000665.2:g.180659549C>G | GRCh38 |
NC_000003.11:g.180377337C>G , CM000665.1:g.180377337C>G | GRCh37 |
NC_000003.10:g.181860031C>G | NCBI36 |
NG_029581.1:g.24947G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476379.6:c.641G>C MANE Select | ENSP00000417960.2:p.Arg214Pro | |
ENST00000650641.1:n.720G>C | ||
ENST00000650889.1:n.813G>C | ||
ENST00000651046.1:c.641G>C | ENSP00000499175.1:p.Arg214Pro | |
ENST00000651818.1:n.783G>C | ||
ENST00000652024.1:n.732G>C | ||
ENST00000652408.1:n.778G>C | ||
ENST00000442201.6:c.641G>C | ENSP00000405708.2:p.Arg214Pro | |
ENST00000476379.5:c.641G>C | ENSP00000417960.1:p.Arg214Pro | |
NM_181426.1:c.641G>C | NP_852091.1:p.Arg214Pro | |
NM_181426.2:c.641G>C MANE Select | NP_852091.1:p.Arg214Pro |