Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659459C>A , CM000665.2:g.180659459C>A | GRCh38 |
| NC_000003.11:g.180377247C>A , CM000665.1:g.180377247C>A | GRCh37 |
| NC_000003.10:g.181859941C>A | NCBI36 |
| NG_029581.1:g.25037G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.731G>T MANE Select | ENSP00000417960.2:p.Cys244Phe | |
| ENST00000650641.1:n.810G>T | ||
| ENST00000650889.1:n.903G>T | ||
| ENST00000651046.1:c.731G>T | ENSP00000499175.1:p.Cys244Phe | |
| ENST00000651818.1:n.873G>T | ||
| ENST00000652024.1:n.822G>T | ||
| ENST00000652408.1:n.868G>T | ||
| ENST00000442201.6:c.731G>T | ENSP00000405708.2:p.Cys244Phe | |
| ENST00000476379.5:c.731G>T | ENSP00000417960.1:p.Cys244Phe | |
| NM_181426.1:c.731G>T | NP_852091.1:p.Cys244Phe | |
| NM_181426.2:c.731G>T MANE Select | NP_852091.1:p.Cys244Phe |