Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.31223169T>G , CM000672.2:g.31223169T>G | GRCh38 |
| NC_000010.10:g.31512098T>G , CM000672.1:g.31512098T>G | GRCh37 |
| NC_000010.9:g.31552104T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_134478.1:n.317+34970T>G | |
| XR_242751.2:n.490+34970T>G |