Canonical Allele Identifier:
CA2687741451
Gene:
Linked Data
gnomAD v4:
8-81478393-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478393G>T , CM000670.2:g.81478393G>T | GRCh38 |
| NC_000008.10:g.82390628G>T , CM000670.1:g.82390628G>T | GRCh37 |
| NC_000008.9:g.82553183G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745980.1:n.514+16419G>T |