Canonical Allele Identifier:
CA14566271
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52898605 (AFR)
Genomes Max Group AF
0.52898605 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.79013973C>T , CM000680.2:g.79013973C>T | GRCh38 |
| NC_000018.9:g.76773973C>T , CM000680.1:g.76773973C>T | GRCh37 |
| NC_000018.8:g.74874961C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001753513.1:n.477+9915G>A | ||
| XR_001753514.1:n.226+9915G>A |