Canonical Allele Identifier:
CA16303442
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94788381 (EAS)
Genomes Max Group AF
0.94788381 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.69146973C>T , CM000669.2:g.69146973C>T | GRCh38 |
| NC_000007.13:g.68611960C>T , CM000669.1:g.68611960C>T | GRCh37 |
| NC_000007.12:g.68249896C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_927647.1:n.88-847G>A |