Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659572C= , CM000665.2:g.180659572C= | GRCh38 |
| NC_000003.11:g.180377360C= , CM000665.1:g.180377360C= | GRCh37 |
| NC_000003.10:g.181860054C= | NCBI36 |
| NG_029581.1:g.24924G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.618G= MANE Select | ENSP00000417960.2:p.Leu206= | |
| ENST00000650641.1:n.697G= | ||
| ENST00000650889.1:n.790G= | ||
| ENST00000651046.1:c.618G= | ENSP00000499175.1:p.Leu206= | |
| ENST00000651818.1:n.760G= | ||
| ENST00000652024.1:n.709G= | ||
| ENST00000652408.1:n.755G= | ||
| ENST00000442201.6:c.618G= | ENSP00000405708.2:p.Leu206= | |
| ENST00000476379.5:c.618G= | ENSP00000417960.1:p.Leu206= | |
| NM_181426.1:c.618G= | NP_852091.1:p.Leu206= | |
| NM_181426.2:c.618G= MANE Select | NP_852091.1:p.Leu206= |