Canonical Allele Identifier:
CA2786053993
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129576821C>A , CM000671.2:g.129576821C>A | GRCh38 |
| NC_000009.11:g.132339100C>A , CM000671.1:g.132339100C>A | GRCh37 |
| NC_000009.10:g.131378921C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930390.1:n.182+1223C>A |