Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.59906284T>G , CM000678.2:g.59906284T>G | GRCh38 |
| NC_000016.9:g.59940188T>G , CM000678.1:g.59940188T>G | GRCh37 |
| NC_000016.8:g.58497689T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110917.1:n.173+50759T>G |