Canonical Allele Identifier:
CA157847104
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09950985 (AFR)
Genomes Max Group AF
0.09950985 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41335525C>A , CM000669.2:g.41335525C>A | GRCh38 |
| NC_000007.13:g.41375123C>A , CM000669.1:g.41375123C>A | GRCh37 |
| NC_000007.12:g.41341648C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_927197.1:n.269+2834C>A | ||
| XR_927198.1:n.269+2834C>A | ||
| XR_927197.2:n.252+2834C>A | ||
| XR_927198.2:n.252+2834C>A |