Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12661223G= , CM000686.2:g.12661223G= | GRCh38 |
| NC_000024.9:g.14773154G= , CM000686.1:g.14773154G= | GRCh37 |
| NC_000024.8:g.13282548G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000457658.6:n.654-1133G= |