Canonical Allele Identifier:
CA14325416
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11615258 (NFE)
Genomes Max Group AF
0.11615258 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17968279C>T , CM000678.2:g.17968279C>T | GRCh38 |
| NC_000016.9:g.18062136C>T , CM000678.1:g.18062136C>T | GRCh37 |
| NC_000016.8:g.17969637C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001752092.2:n.260-591G>A | ||
| XR_001752093.1:n.260-591G>A |