Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.52565276C>T , CM000678.2:g.52565276C>T | GRCh38 |
| NC_000016.9:g.52599188C>T , CM000678.1:g.52599188C>T | GRCh37 |
| NC_000016.8:g.51156689C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033920.1:n.605-2414G>A |