Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180654943C>T , CM000665.2:g.180654943C>T | GRCh38 |
| NC_000003.11:g.180372731C>T , CM000665.1:g.180372731C>T | GRCh37 |
| NC_000003.10:g.181855425C>T | NCBI36 |
| NG_029581.1:g.29553G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181426.2:c.749G>A MANE Select | NP_852091.1:p.Arg250Lys |
| ENST00000476379.6:c.749G>A MANE Select | ENSP00000417960.2:p.Arg250Lys |
| NM_181426.1:c.749G>A | NP_852091.1:p.Arg250Lys |
| ENST00000442201.6:c.749G>A | ENSP00000405708.2:p.Arg250Lys |
| ENST00000476379.5:c.749G>A | ENSP00000417960.1:p.Arg250Lys |
| ENST00000650641.1:n.818-2677G>A | |
| ENST00000650889.1:n.921G>A | |
| ENST00000651046.1:c.739-2677G>A | ENSP00000499175.1:n.739-2677G>A |
| ENST00000651818.1:n.881-2677G>A | |
| ENST00000652024.1:n.830-2677G>A | |
| ENST00000652408.1:n.886G>A |