Canonical Allele Identifier:
CA295331570
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99349742 (NFE)
Genomes Max Group AF
0.99349742 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.1366300C>T , CM000680.2:g.1366300C>T | GRCh38 |
| NC_000018.9:g.1366301C>T , CM000680.1:g.1366301C>T | GRCh37 |
| NC_000018.8:g.1356301C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_935085.1:n.375G>A | ||
| XR_002958193.1:n.405G>A | ||
| XR_002958194.1:n.244-75G>A | ||
| XR_002958195.1:n.405G>A |