Canonical Allele Identifier:
CA2782088781
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125478444G>A , CM000670.2:g.125478444G>A | GRCh38 |
| NC_000008.10:g.126490686G>A , CM000670.1:g.126490686G>A | GRCh37 |
| NC_000008.9:g.126559868G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928628.1:n.256+5130G>A |