Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.52610012C>T , CM000678.2:g.52610012C>T | GRCh38 |
| NC_000016.9:g.52643924C>T , CM000678.1:g.52643924C>T | GRCh37 |
| NC_000016.8:g.51201425C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_933575.1:n.486-2463C>T | ||
| XR_933577.1:n.485+2474C>T | ||
| XR_933578.1:n.874+109C>T | ||
| XR_933579.1:n.100-2560C>T | ||
| XR_933578.2:n.851+109C>T |