Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.85757034C>T , CM000677.2:g.85757034C>T | GRCh38 |
| NC_000015.9:g.86300265C>T , CM000677.1:g.86300265C>T | GRCh37 |
| NC_000015.8:g.84101269C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120366.1:n.419+850G>A |