Canonical Allele Identifier:
CA288756824
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95715208 (NFE)
Genomes Max Group AF
0.95715208 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14390704C>T , CM000679.2:g.14390704C>T | GRCh38 |
| NC_000017.10:g.14294021C>T , CM000679.1:g.14294021C>T | GRCh37 |
| NC_000017.9:g.14234746C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001752800.1:n.268+8603C>T |