Canonical Allele Identifier:
CA2581137683
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48892795G>C , CM000675.2:g.48892795G>C | GRCh38 |
| NC_000013.10:g.49466931G>C , CM000675.1:g.49466931G>C | GRCh37 |
| NC_000013.9:g.48364932G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001749987.1:n.221-4249G>C |