Canonical Allele Identifier:
CA242665613
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29660541 (AFR)
Genomes Max Group AF
0.29660541 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102497908T>C , CM000674.2:g.102497908T>C | GRCh38 |
| NC_000012.11:g.102891686T>C , CM000674.1:g.102891686T>C | GRCh37 |
| NC_000012.10:g.101415816T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001749289.1:n.1952+14020T>C |