Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96287321A>G , CM000677.2:g.96287321A>G | GRCh38 |
| NC_000015.9:g.96830550A>G , CM000677.1:g.96830550A>G | GRCh37 |
| NC_000015.8:g.94631554A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_102743.1:n.409+1343T>C | |
| NR_125738.1:n.317+3309T>C |