Canonical Allele Identifier:
CA93117902
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00272208 (EAS)
Genomes Max Group AF
0.00272208 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.12578135C>T , CM000666.2:g.12578135C>T | GRCh38 |
| NC_000004.11:g.12579759C>T , CM000666.1:g.12579759C>T | GRCh37 |
| NC_000004.10:g.12188857C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925406.1:n.106+31207G>A | ||
| XR_001741374.1:n.254+44520G>A | ||
| XR_925406.3:n.140+31207G>A |