Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78361310C= , CM000679.2:g.78361310C= | GRCh38 |
| NC_000017.10:g.76357391C= , CM000679.1:g.76357391C= | GRCh37 |
| NC_000017.9:g.73868986C= | NCBI36 |
| NG_016851.1:g.3768G= , LRG_619:g.3768G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_110845.1:n.327-456C= | |
| NR_110846.1:n.59+250C= | |
| NR_110847.1:n.326+537C= |