Canonical Allele Identifier:
CA2687741453
Gene:
Linked Data
gnomAD v4:
8-81478395-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478395G>A , CM000670.2:g.81478395G>A | GRCh38 |
| NC_000008.10:g.82390630G>A , CM000670.1:g.82390630G>A | GRCh37 |
| NC_000008.9:g.82553185G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745980.1:n.514+16421G>A |