dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.68614263A>C , CM000671.2:g.68614263A>C | GRCh38 |
| NC_000009.11:g.71229179A>C , CM000671.1:g.71229179A>C | GRCh37 |
| NC_000009.10:g.70418999A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_929903.1:n.450-11378A>C | ||
| XR_001746701.2:n.343-11378A>C |