Canonical Allele Identifier:
CA82198663
Community Standard Title: NC_000003.12:g.117515992G>A
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.117515992G>A , CM000665.2:g.117515992G>A | GRCh38 |
| NC_000003.11:g.117234839G>A , CM000665.1:g.117234839G>A | GRCh37 |
| NC_000003.10:g.118717529G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001740490.2:n.4763+1492G>A | |
| XR_924361.1:n.298+1492G>A | |
| XR_924361.2:n.127+1492G>A |