Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24447626C= , CM000684.2:g.24447626C= | GRCh38 |
| NC_000022.10:g.24843594C= , CM000684.1:g.24843594C= | GRCh37 |
| NC_000022.9:g.23173594C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_028483.2:n.1121+4585G= | |
| NR_028484.2:n.685-5486G= | |
| NR_028484.3:n.685-5486G= |