Canonical Allele Identifier:
CA15780810
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70969901 (EAS)
Genomes Max Group AF
0.70969901 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.80049211A>C , CM000675.2:g.80049211A>C | GRCh38 |
| NC_000013.10:g.80623346A>C , CM000675.1:g.80623346A>C | GRCh37 |
| NC_000013.9:g.79521347A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_245449.3:n.131+1049T>G | ||
| XR_942114.1:n.146+751T>G |