Canonical Allele Identifier:
CA14878282
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89668314 (EAS)
Genomes Max Group AF
0.89668314 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.27324157T>C , CM000683.2:g.27324157T>C | GRCh38 |
| NC_000021.8:g.28696476T>C , CM000683.1:g.28696476T>C | GRCh37 |
| NC_000021.7:g.27618347T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_430359.2:n.834+26342A>G | ||
| XR_937629.1:n.834+26342A>G | ||
| XR_937630.1:n.834+26342A>G | ||
| XR_430359.3:n.847+26342A>G | ||
| XR_937629.2:n.847+26342A>G |