Canonical Allele Identifier:
CA973405579
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.99817230T>G , CM000677.2:g.99817230T>G | GRCh38 |
| NC_000015.9:g.100357435T>G , CM000677.1:g.100357435T>G | GRCh37 |
| NC_000015.8:g.98174958T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_932717.1:n.408+4144T>G | ||
| XR_932718.1:n.408+4144T>G | ||
| XR_932719.1:n.514+8928T>G | ||
| XR_932720.1:n.409-1708T>G | ||
| NR_135737.1:n.346+4144T>G |