Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127091989G>A , CM000670.2:g.127091989G>A | GRCh38 |
| NC_000008.10:g.128104234G>A , CM000670.1:g.128104234G>A | GRCh37 |
| NC_000008.9:g.128173416G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_109833.1:n.12116G>A |