Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96287285C>T , CM000677.2:g.96287285C>T | GRCh38 |
| NC_000015.9:g.96830514C>T , CM000677.1:g.96830514C>T | GRCh37 |
| NC_000015.8:g.94631518C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_102743.1:n.409+1379G>A | ||
| NR_125738.1:n.317+3345G>A |