Canonical Allele Identifier:
CA721559949
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.52313907T>A , CM000678.2:g.52313907T>A | GRCh38 |
| NC_000016.9:g.52347819T>A , CM000678.1:g.52347819T>A | GRCh37 |
| NC_000016.8:g.50905320T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001752184.1:n.537-14041A>T | ||
| XR_001752185.1:n.504-14041A>T | ||
| XR_001752186.1:n.399-14041A>T |