Canonical Allele Identifier:
CA13937179
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.48957639G>T , CM000676.2:g.48957639G>T | GRCh38 |
| NC_000014.8:g.49426842G>T , CM000676.1:g.49426842G>T | GRCh37 |
| NC_000014.7:g.48496592G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001750756.1:n.504+40593C>A |