Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.7967878T>C , CM000669.2:g.7967878T>C | GRCh38 |
| NC_000007.13:g.8007509T>C , CM000669.1:g.8007509T>C | GRCh37 |
| NC_000007.12:g.7974034T>C | NCBI36 |
| NG_032073.1:g.4136T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_110018.1:n.209+666A>G (GLCCI1-DT) | |
| ENST00000482067.3:n.427T>C (UMAD1) | |
| XR_927011.1:n.218T>C | |
| XR_927012.1:n.624T>C |