Canonical Allele Identifier:
CA185688687
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.126999631A>G , CM000670.2:g.126999631A>G | GRCh38 |
| NC_000008.10:g.128011876A>G , CM000670.1:g.128011876A>G | GRCh37 |
| NC_000008.9:g.128081058A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001746076.2:n.1301-6924A>G |