Canonical Allele Identifier:
CA80182538
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18594258 (EAS)
Genomes Max Group AF
0.18594258 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.99547493C>T , CM000665.2:g.99547493C>T | GRCh38 |
| NC_000003.11:g.99266337C>T , CM000665.1:g.99266337C>T | GRCh37 |
| NC_000003.10:g.100749027C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001740463.1:n.96+42114G>A | ||
| XR_001740466.2:n.475G>A | ||
| XR_924268.2:n.475G>A |