Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.58450052A>G , CM000680.2:g.58450052A>G | GRCh38 |
| NC_000018.9:g.56117284A>G , CM000680.1:g.56117284A>G | GRCh37 |
| NC_000018.8:g.54268264A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001753465.2:n.1291A>G | ||
| NR_170243.1:n.308-439A>G | ||
| NR_170244.1:n.307+512A>G | ||
| NR_170245.1:n.307+512A>G |