Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582140C>T , CM000673.2:g.47582140C>T | GRCh38 |
| NC_000011.9:g.47603692C>T , CM000673.1:g.47603692C>T | GRCh37 |
| NC_000011.8:g.47560268C>T | NCBI36 |
| NG_011946.1:g.8131C>T | |
| NG_011946.2:g.8131C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004551.3:c.434C>T MANE Select | NP_004542.1:p.Thr145Ile |
| ENST00000263774.9:c.434C>T MANE Select | ENSP00000263774.4:p.Thr145Ile |
| NM_004551.2:c.434C>T | NP_004542.1:p.Thr145Ile |
| ENST00000263774.8:c.434C>T | ENSP00000263774.4:p.Thr145Ile |
| ENST00000524568.1:n.537C>T | |
| ENST00000525212.1:n.89C>T | |
| ENST00000525378.5:n.372C>T | |
| ENST00000531351.2:n.1494C>T | |
| ENST00000533507.5:n.1328C>T | |
| ENST00000677462.1:n.2908C>T | |
| ENST00000678975.1:n.2691C>T |