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