Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582436C= , CM000673.2:g.47582436C= | GRCh38 |
| NC_000011.9:g.47603988C= , CM000673.1:g.47603988C= | GRCh37 |
| NC_000011.8:g.47560564C= | NCBI36 |
| NG_011946.1:g.8427C= | |
| NG_011946.2:g.8427C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004551.3:c.595C= MANE Select | NP_004542.1:p.Arg199= |
| ENST00000263774.9:c.595C= MANE Select | ENSP00000263774.4:p.Arg199= |
| NM_004551.2:c.595C= | NP_004542.1:p.Arg199= |
| ENST00000263774.8:c.595C= | ENSP00000263774.4:p.Arg199= |
| ENST00000524568.1:n.698C= | |
| ENST00000525212.1:n.250C= | |
| ENST00000525378.5:n.533C= | |
| ENST00000527178.1:n.195C= | |
| ENST00000531351.2:n.1790C= | |
| ENST00000533507.5:n.1489C= | |
| ENST00000677462.1:n.3069C= | |
| ENST00000678975.1:n.2852C= |