Canonical Allele Identifier:
CA242965856
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16858399 (EAS)
Genomes Max Group AF
0.16858399 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.104424414C>T , CM000674.2:g.104424414C>T | GRCh38 |
| NC_000012.11:g.104818192C>T , CM000674.1:g.104818192C>T | GRCh37 |
| NC_000012.10:g.103342322C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001749294.1:n.841-6025C>T | ||
| XR_001749295.1:n.1046-6025C>T |