Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582140C= , CM000673.2:g.47582140C= | GRCh38 |
| NC_000011.9:g.47603692C= , CM000673.1:g.47603692C= | GRCh37 |
| NC_000011.8:g.47560268C= | NCBI36 |
| NG_011946.1:g.8131C= | |
| NG_011946.2:g.8131C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.434C= MANE Select | ENSP00000263774.4:p.Thr145= | |
| ENST00000531351.2:n.1494C= | ||
| ENST00000677462.1:n.2908C= | ||
| ENST00000678975.1:n.2691C= | ||
| ENST00000263774.8:c.434C= | ENSP00000263774.4:p.Thr145= | |
| ENST00000524568.1:n.537C= | ||
| ENST00000525212.1:n.89C= | ||
| ENST00000525378.5:n.372C= | ||
| ENST00000533507.5:n.1328C= | ||
| NM_004551.2:c.434C= | NP_004542.1:p.Thr145= | |
| NM_004551.3:c.434C= MANE Select | NP_004542.1:p.Thr145= |