Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.58899597G>T , CM000676.2:g.58899597G>T | GRCh38 |
| NC_000014.8:g.59366315G>T , CM000676.1:g.59366315G>T | GRCh37 |
| NC_000014.7:g.58436068G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110547.1:n.457+5266G>T |