Canonical Allele Identifier:
CA715973076
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78406417C>A , CM000677.2:g.78406417C>A | GRCh38 |
| NC_000015.9:g.78698759C>A , CM000677.1:g.78698759C>A | GRCh37 |
| NC_000015.8:g.76485814C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_932504.1:n.237-128C>A | ||
| XR_932505.1:n.237-128C>A | ||
| XR_932506.1:n.165C>A | ||
| XR_932507.1:n.165C>A | ||
| XR_932506.2:n.344C>A |