Canonical Allele Identifier:
CA2687741462
Gene:
Linked Data
gnomAD v4:
8-81478407-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478407G>T , CM000670.2:g.81478407G>T | GRCh38 |
| NC_000008.10:g.82390642G>T , CM000670.1:g.82390642G>T | GRCh37 |
| NC_000008.9:g.82553197G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745980.1:n.514+16433G>T |