Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27557959C>T , CM000670.2:g.27557959C>T | GRCh38 |
| NC_000008.10:g.27415476C>T , CM000670.1:g.27415476C>T | GRCh37 |
| NC_000008.9:g.27471393C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745491.1:n.1647+13715C>T |