Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.85282336C>A , CM000677.2:g.85282336C>A | GRCh38 |
| NC_000015.9:g.85825567C>A , CM000677.1:g.85825567C>A | GRCh37 |
| NC_000015.8:g.83626571C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559518.1:n.152-8168G>T |