Canonical Allele Identifier:
CA272265183
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90879074 (NFE)
Genomes Max Group AF
0.90879074 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.61410580A>G , CM000677.2:g.61410580A>G | GRCh38 |
| NC_000015.9:g.61702779A>G , CM000677.1:g.61702779A>G | GRCh37 |
| NC_000015.8:g.59490071A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_932332.1:n.145-136A>G | ||
| XR_932333.1:n.145-136A>G | ||
| XR_932334.1:n.145-136A>G | ||
| XR_932332.2:n.251-136A>G | ||
| XR_932333.2:n.251-136A>G |