dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.17709320A>C , CM000668.2:g.17709320A>C | GRCh38 |
| NC_000006.11:g.17709551A>C , CM000668.1:g.17709551A>C | GRCh37 |
| NC_000006.10:g.17817530A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926543.1:n.320-1469A>C | ||
| XR_926544.1:n.1022+213A>C | ||
| XR_926545.1:n.848-1469A>C | ||
| NR_134618.1:n.320-1469A>C |