Canonical Allele Identifier:
CA11100048
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40864562 (AFR)
Genomes Max Group AF
0.40864562 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.226155937A>G , CM000664.2:g.226155937A>G | GRCh38 |
| NC_000002.11:g.227020653A>G , CM000664.1:g.227020653A>G | GRCh37 |
| NC_000002.10:g.226728897A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046102.1:n.293-8451A>G |