Canonical Allele Identifier:
CA15402636
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75940557 (NFE)
Genomes Max Group AF
0.75940557 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.160484499C>A , CM000667.2:g.160484499C>A | GRCh38 |
| NC_000005.9:g.159911506C>A , CM000667.1:g.159911506C>A | GRCh37 |
| NC_000005.8:g.159844084C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_132748.1:n.191-800C>A |