Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47584307C>T , CM000673.2:g.47584307C>T | GRCh38 |
| NC_000011.9:g.47605859C>T , CM000673.1:g.47605859C>T | GRCh37 |
| NC_000011.8:g.47562435C>T | NCBI36 |
| NG_011946.1:g.10298C>T | |
| NG_011946.2:g.10298C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004551.3:c.628-7C>T MANE Select | NP_004542.1:n.628-7C>T |
| ENST00000263774.9:c.628-7C>T MANE Select | ENSP00000263774.4:n.628-7C>T |
| NM_004551.2:c.628-7C>T | NP_004542.1:n.628-7C>T |
| ENST00000263774.8:c.628-7C>T | ENSP00000263774.4:n.628-7C>T |
| ENST00000525212.1:n.283-7C>T | |
| ENST00000525378.5:n.566-7C>T | |
| ENST00000527178.1:n.228-7C>T | |
| ENST00000531351.2:n.1823-7C>T | |
| ENST00000533507.5:n.1522-7C>T | |
| ENST00000677462.1:n.3102-7C>T | |
| ENST00000678975.1:n.2885-7C>T |