Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36104812C>G , CM000676.2:g.36104812C>G | GRCh38 |
| NC_000014.8:g.36574018C>G , CM000676.1:g.36574018C>G | GRCh37 |
| NC_000014.7:g.35643769C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_073454.1:n.259+34127C>G |