Canonical Allele Identifier:
CA982866614
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30237328T>G , CM000679.2:g.30237328T>G | GRCh38 |
| NC_000017.10:g.28564346T>G , CM000679.1:g.28564346T>G | GRCh37 |
| NC_000017.9:g.25588472T>G | NCBI36 |
| NG_011747.2:g.3609A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934654.1:n.165+258T>G | ||
| XR_001752824.1:n.280+258T>G |