Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.199050726G>C , CM000663.2:g.199050726G>C | GRCh38 |
| NC_000001.10:g.199019855G>C , CM000663.1:g.199019855G>C | GRCh37 |
| NC_000001.9:g.197286478G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_126351.1:n.450+9054G>C |