Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.41054257A>G , CM000676.2:g.41054257A>G | GRCh38 |
| NC_000014.8:g.41523462A>G , CM000676.1:g.41523462A>G | GRCh37 |
| NC_000014.7:g.40593212A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_109758.1:n.346+79867A>G |