Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125437T= , CM000665.2:g.49125437T= | GRCh38 |
| NC_000003.11:g.49162870T= , CM000665.1:g.49162870T= | GRCh37 |
| NC_000003.10:g.49137874T= | NCBI36 |
| NG_008094.1:g.12730A= | |
| NG_054716.1:g.502A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2536A= MANE Select | ENSP00000307156.4:p.Thr846= | |
| ENST00000305544.8:c.2536A= | ENSP00000307156.4:p.Thr846= | |
| ENST00000418109.5:c.2536A= | ENSP00000388325.1:p.Thr846= | |
| ENST00000464891.5:n.285A= | ||
| ENST00000477701.1:n.409A= | ||
| ENST00000483057.1:n.136A= | ||
| ENST00000486298.5:n.426-268A= | ||
| NM_002292.3:c.2536A= | NP_002283.3:p.Thr846= | |
| XM_005265127.3:c.2536A= | XP_005265184.1:p.Thr846= | |
| XM_005265127.4:c.2536A= | XP_005265184.1:p.Thr846= | |
| NM_002292.4:c.2536A= MANE Select | NP_002283.3:p.Thr846= |