Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96287247T>C , CM000677.2:g.96287247T>C | GRCh38 |
| NC_000015.9:g.96830476T>C , CM000677.1:g.96830476T>C | GRCh37 |
| NC_000015.8:g.94631480T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_102743.1:n.409+1417A>G | ||
| NR_125738.1:n.317+3383A>G |