Canonical Allele Identifier:
CA2801552280
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50857015T>G , CM000676.2:g.50857015T>G | GRCh38 |
| NC_000014.8:g.51323733T>G , CM000676.1:g.51323733T>G | GRCh37 |
| NC_000014.7:g.50393483T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943848.1:n.282+1083A>C | ||
| XR_943848.2:n.643+1083A>C |