Canonical Allele Identifier:
CA2687741443
Gene:
Linked Data
gnomAD v4:
8-81478382-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478382G>A , CM000670.2:g.81478382G>A | GRCh38 |
| NC_000008.10:g.82390617G>A , CM000670.1:g.82390617G>A | GRCh37 |
| NC_000008.9:g.82553172G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745980.1:n.514+16408G>A |