Canonical Allele Identifier:
CA123471491
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3104491 (EAS)
Genomes Max Group AF
0.3104491 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96207022C>A , CM000667.2:g.96207022C>A | GRCh38 |
| NC_000005.9:g.95542726C>A , CM000667.1:g.95542726C>A | GRCh37 |
| NC_000005.8:g.95568482C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130776.1:n.37-101702C>A | ||
| XR_001742451.1:n.3292-7953C>A |