Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51002034G>C , CM000675.2:g.51002034G>C | GRCh38 |
| NC_000013.10:g.51576170G>C , CM000675.1:g.51576170G>C | GRCh37 |
| NC_000013.9:g.50474171G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003923.2:n.2721+2219C>G (GUCY1B2) | |
| ENST00000493639.6:n.2570+2219C>G (GUCY1B2) | |
| ENST00000533288.5:n.257+2219C>G (GUCY1B2) | |
| ENST00000643529.1:c.338+8327G>C (RNASEH2B) |