Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659509C>A , CM000665.2:g.180659509C>A | GRCh38 |
| NC_000003.11:g.180377297C>A , CM000665.1:g.180377297C>A | GRCh37 |
| NC_000003.10:g.181859991C>A | NCBI36 |
| NG_029581.1:g.24987G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.681G>T MANE Select | ENSP00000417960.2:p.Trp227Cys | |
| ENST00000650641.1:n.760G>T | ||
| ENST00000650889.1:n.853G>T | ||
| ENST00000651046.1:c.681G>T | ENSP00000499175.1:p.Trp227Cys | |
| ENST00000651818.1:n.823G>T | ||
| ENST00000652024.1:n.772G>T | ||
| ENST00000652408.1:n.818G>T | ||
| ENST00000442201.6:c.681G>T | ENSP00000405708.2:p.Trp227Cys | |
| ENST00000476379.5:c.681G>T | ENSP00000417960.1:p.Trp227Cys | |
| NM_181426.1:c.681G>T | NP_852091.1:p.Trp227Cys | |
| NM_181426.2:c.681G>T MANE Select | NP_852091.1:p.Trp227Cys |