Canonical Allele Identifier:
CA2593600391
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.56419968A>T , CM000676.2:g.56419968A>T | GRCh38 |
| NC_000014.8:g.56886686A>T , CM000676.1:g.56886686A>T | GRCh37 |
| NC_000014.7:g.55956439A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943903.1:n.202-6220A>T |