Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.73709607A>G , CM000663.2:g.73709607A>G | GRCh38 |
| NC_000001.10:g.74175290A>G , CM000663.1:g.74175290A>G | GRCh37 |
| NC_000001.9:g.73947878A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_146300.1:n.473+182A>G |