Canonical Allele Identifier:
CA154679117
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22628297 (EAS)
Genomes Max Group AF
0.22628297 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.15751201A>G , CM000669.2:g.15751201A>G | GRCh38 |
| NC_000007.13:g.15790826A>G , CM000669.1:g.15790826A>G | GRCh37 |
| NC_000007.12:g.15757351A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_927058.1:n.222-14432T>C | ||
| XR_927058.2:n.388-14432T>C |