Canonical Allele Identifier:
CA181643153
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99347963 (NFE)
Genomes Max Group AF
0.99347963 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89329957A>G , CM000670.2:g.89329957A>G | GRCh38 |
| NC_000008.10:g.90342186A>G , CM000670.1:g.90342186A>G | GRCh37 |
| NC_000008.9:g.90411302A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002956667.1:n.178+88087T>C |