Canonical Allele Identifier:
CA50887582
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9075547 (EAS)
Genomes Max Group AF
0.9075547 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.77848118G>A , CM000664.2:g.77848118G>A | GRCh38 |
| NC_000002.11:g.78075244G>A , CM000664.1:g.78075244G>A | GRCh37 |
| NC_000002.10:g.77928752G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110288.1:n.428-8228C>T |