Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.58449845C>T , CM000680.2:g.58449845C>T | GRCh38 |
| NC_000018.9:g.56117077C>T , CM000680.1:g.56117077C>T | GRCh37 |
| NC_000018.8:g.54268057C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001753465.2:n.1084C>T | ||
| NR_170243.1:n.307+305C>T | ||
| NR_170244.1:n.307+305C>T | ||
| NR_170245.1:n.307+305C>T |