Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659510C>A , CM000665.2:g.180659510C>A | GRCh38 |
| NC_000003.11:g.180377298C>A , CM000665.1:g.180377298C>A | GRCh37 |
| NC_000003.10:g.181859992C>A | NCBI36 |
| NG_029581.1:g.24986G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.680G>T MANE Select | ENSP00000417960.2:p.Trp227Leu | |
| ENST00000650641.1:n.759G>T | ||
| ENST00000650889.1:n.852G>T | ||
| ENST00000651046.1:c.680G>T | ENSP00000499175.1:p.Trp227Leu | |
| ENST00000651818.1:n.822G>T | ||
| ENST00000652024.1:n.771G>T | ||
| ENST00000652408.1:n.817G>T | ||
| ENST00000442201.6:c.680G>T | ENSP00000405708.2:p.Trp227Leu | |
| ENST00000476379.5:c.680G>T | ENSP00000417960.1:p.Trp227Leu | |
| NM_181426.1:c.680G>T | NP_852091.1:p.Trp227Leu | |
| NM_181426.2:c.680G>T MANE Select | NP_852091.1:p.Trp227Leu |