Canonical Allele Identifier:
CA775631966
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8136976A>C , CM000679.2:g.8136976A>C | GRCh38 |
| NC_000017.10:g.8040294A>C , CM000679.1:g.8040294A>C | GRCh37 |
| NC_000017.9:g.7981019A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934202.1:n.183-1873A>C | ||
| XR_934203.1:n.70-2501A>C | ||
| XR_934202.2:n.414-1873A>C |