Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.79241030C>A , CM000677.2:g.79241030C>A | GRCh38 |
| NC_000015.9:g.79533372C>A , CM000677.1:g.79533372C>A | GRCh37 |
| NC_000015.8:g.77320427C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038997.1:n.297+42619G>T |