Canonical Allele Identifier:
CA135160652
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97381478 (EAS)
Genomes Max Group AF
0.97381478 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.14636732T>C , CM000668.2:g.14636732T>C | GRCh38 |
| NC_000006.11:g.14636963T>C , CM000668.1:g.14636963T>C | GRCh37 |
| NC_000006.10:g.14744942T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_241980.2:n.173+7219A>G | ||
| XR_926515.1:n.173+7219A>G | ||
| XR_926517.1:n.84+5430A>G | ||
| XR_001743992.1:n.559+5430A>G | ||
| XR_241980.3:n.421+7219A>G |