Canonical Allele Identifier:
CA261177689
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0595906 (AFR)
Genomes Max Group AF
0.0595906 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.48994281A>G , CM000676.2:g.48994281A>G | GRCh38 |
| NC_000014.8:g.49463484A>G , CM000676.1:g.49463484A>G | GRCh37 |
| NC_000014.7:g.48533234A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001750756.1:n.504+3951T>C |