Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.357106C= , CM000674.2:g.357106C= | GRCh38 |
| NC_000012.11:g.466272C= , CM000674.1:g.466272C= | GRCh37 |
| NC_000012.10:g.336533C= | NCBI36 |
| NG_046993.1:g.37350G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001042603.3:c.673-569G= MANE Select | NP_001036068.1:n.673-569G= |
| ENST00000399788.7:c.673-569G= MANE Select | ENSP00000382688.2:n.673-569G= |
| NM_001042603.2:c.673-569G= | NP_001036068.1:n.673-569G= |
| ENST00000382815.8:c.673-569G= | ENSP00000372265.5:n.673-569G= |
| ENST00000399788.6:c.673-569G= | ENSP00000382688.2:n.673-569G= |
| ENST00000544760.1:c.166-22684G= | ENSP00000440622.1:n.166-22684G= |