dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27572989A>C , CM000670.2:g.27572989A>C | GRCh38 |
| NC_000008.10:g.27430506A>C , CM000670.1:g.27430506A>C | GRCh37 |
| NC_000008.9:g.27486423A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454030.1:n.198-4622A>C (GULOP) | ||
| XR_001745491.1:n.1648-19344A>C (EPHX2) |