Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86478309T>C , CM000678.2:g.86478309T>C | GRCh38 |
| NC_000016.9:g.86511915T>C , CM000678.1:g.86511915T>C | GRCh37 |
| NC_000016.8:g.85069416T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_033925.1:n.259-258A>G |