Canonical Allele Identifier:
CA726452489
Gene:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001171 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15922707A>G , CM000679.2:g.15922707A>G | GRCh38 |
| NC_000017.10:g.15826021A>G , CM000679.1:g.15826021A>G | GRCh37 |
| NC_000017.9:g.15766746A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011524118.1:c.349-3436A>G | XP_011522420.1:n.349-3436A>G |