gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.7967878T>A , CM000669.2:g.7967878T>A | GRCh38 |
| NC_000007.13:g.8007509T>A , CM000669.1:g.8007509T>A | GRCh37 |
| NC_000007.12:g.7974034T>A | NCBI36 |
| NG_032073.1:g.4136T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482067.3:n.427T>A (UMAD1) | ||
| NR_110018.1:n.209+666A>T (GLCCI1-DT) | ||
| XR_927011.1:n.218T>A | ||
| XR_927012.1:n.624T>A |