dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48045642G>C , CM000679.2:g.48045642G>C | GRCh38 |
| NC_000017.10:g.46123004G>C , CM000679.1:g.46123004G>C | GRCh37 |
| NC_000017.9:g.43478003G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934474.1:n.883+1567C>G | ||
| XR_002958017.1:n.878+1567C>G | ||
| XR_934474.2:n.878+1567C>G |