HGVS | Genome Assembly |
---|---|
NC_000003.12:g.180659459C>G , CM000665.2:g.180659459C>G | GRCh38 |
NC_000003.11:g.180377247C>G , CM000665.1:g.180377247C>G | GRCh37 |
NC_000003.10:g.181859941C>G | NCBI36 |
NG_029581.1:g.25037G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476379.6:c.731G>C MANE Select | ENSP00000417960.2:p.Cys244Ser | |
ENST00000650641.1:n.810G>C | ||
ENST00000650889.1:n.903G>C | ||
ENST00000651046.1:c.731G>C | ENSP00000499175.1:p.Cys244Ser | |
ENST00000651818.1:n.873G>C | ||
ENST00000652024.1:n.822G>C | ||
ENST00000652408.1:n.868G>C | ||
ENST00000442201.6:c.731G>C | ENSP00000405708.2:p.Cys244Ser | |
ENST00000476379.5:c.731G>C | ENSP00000417960.1:p.Cys244Ser | |
NM_181426.1:c.731G>C | NP_852091.1:p.Cys244Ser | |
NM_181426.2:c.731G>C MANE Select | NP_852091.1:p.Cys244Ser |