Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180619298G>T , CM000665.2:g.180619298G>T | GRCh38 |
| NC_000003.11:g.180337086G>T , CM000665.1:g.180337086G>T | GRCh37 |
| NC_000003.10:g.181819780G>T | NCBI36 |
| NG_029581.1:g.65198C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.2226C>A MANE Select | ENSP00000417960.2:p.Tyr742Ter | |
| ENST00000650641.1:n.2113C>A | ||
| ENST00000651046.1:c.2034C>A | ENSP00000499175.1:p.Tyr678Ter | |
| ENST00000651922.1:n.1551C>A | ||
| ENST00000652010.1:n.2302C>A | ||
| ENST00000652408.1:n.2363C>A | ||
| ENST00000442201.6:c.2226C>A | ENSP00000405708.2:p.Tyr742Ter | |
| ENST00000476379.5:c.*50C>A | ENSP00000417960.1:n.*50C>A | |
| NM_181426.1:c.2226C>A | NP_852091.1:p.Tyr742Ter | |
| NM_181426.2:c.2226C>A MANE Select | NP_852091.1:p.Tyr742Ter |