Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19063884C= , CM000686.2:g.19063884C= | GRCh38 |
| NC_000024.9:g.21225770C= , CM000686.1:g.21225770C= | GRCh37 |
| NC_000024.8:g.19685158C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_001543.3:n.560-5284G= | ||
| NR_125733.1:n.578+4840G= | ||
| NR_125734.1:n.578+4840G= | ||
| NR_125735.1:n.503+13161G= | ||
| NR_125736.1:n.138+4840G= | ||
| NR_125737.1:n.138+4840G= | ||
| NR_001543.4:n.503+13161G= | ||
| NR_125737.2:n.138+4840G= | ||
| NR_158640.1:n.152+9615G= | ||
| NR_158641.1:n.164+4840G= |