Canonical Allele Identifier:
CA14127570
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26878398 (NFE)
Genomes Max Group AF
0.26878398 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.24496144C>T , CM000677.2:g.24496144C>T | GRCh38 |
| NC_000015.9:g.24741291C>T , CM000677.1:g.24741291C>T | GRCh37 |
| NC_000015.8:g.22292384C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017022805.1:c.-369+2816C>T | XP_016878294.1:n.-369+2816C>T | |
| XM_017022806.1:c.223-39553C>T | XP_016878295.1:n.223-39553C>T | |
| XR_001751748.1:n.795-12717C>T | ||
| XR_001751749.2:n.700+2816C>T |