Canonical Allele Identifier:
CA1110521982
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.9327636T>G , CM000670.2:g.9327636T>G | GRCh38 |
| NC_000008.10:g.9185146T>G , CM000670.1:g.9185146T>G | GRCh37 |
| NC_000008.9:g.9222556T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_040039.1:n.765+1333T>G |