Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31306664G>C , CM000668.2:g.31306664G>C | GRCh38 |
| NC_000006.11:g.31274441G>C , CM000668.1:g.31274441G>C | GRCh37 |
| NC_000006.10:g.31382420G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_926691.1:n.949+114C>G | ||
| XR_926691.2:n.965+114C>G |