dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8912261A>C , CM000672.2:g.8912261A>C | GRCh38 |
| NC_000010.10:g.8954224A>C , CM000672.1:g.8954224A>C | GRCh37 |
| NC_000010.9:g.8994230A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_131944.1:n.176-1561A>C | ||
| XR_930641.1:n.32+153102T>G |