Canonical Allele Identifier:
CA2838354453
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.111430283G>T , CM000675.2:g.111430283G>T | GRCh38 |
| NC_000013.10:g.112082630G>T , CM000675.1:g.112082630G>T | GRCh37 |
| NC_000013.9:g.110880631G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001750032.1:n.594+18804G>T |