Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180631496C>A , CM000665.2:g.180631496C>A | GRCh38 |
| NC_000003.11:g.180349284C>A , CM000665.1:g.180349284C>A | GRCh37 |
| NC_000003.10:g.181831978C>A | NCBI36 |
| NG_029581.1:g.53000G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181426.2:c.1971G>T MANE Select | NP_852091.1:p.Glu657Asp |
| ENST00000476379.6:c.1971G>T MANE Select | ENSP00000417960.2:p.Glu657Asp |
| NM_181426.1:c.1971G>T | NP_852091.1:p.Glu657Asp |
| ENST00000442201.6:c.1971G>T | ENSP00000405708.2:p.Glu657Asp |
| ENST00000476379.5:c.1971G>T | ENSP00000417960.1:p.Glu657Asp |
| ENST00000650641.1:n.1858G>T | |
| ENST00000651046.1:c.1779G>T | ENSP00000499175.1:p.Glu593Asp |
| ENST00000651922.1:n.1296G>T | |
| ENST00000652408.1:n.2108G>T |