Canonical Allele Identifier:
CA15731839
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56996084 (AFR)
Genomes Max Group AF
0.56996084 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114430333A>G , CM000674.2:g.114430333A>G | GRCh38 |
| NC_000012.11:g.114868138A>G , CM000674.1:g.114868138A>G | GRCh37 |
| NC_000012.10:g.113352521A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945376.1:n.151-5256T>C | ||
| XR_001749319.1:n.177-5256T>C | ||
| XR_945376.2:n.177-5256T>C |