Canonical Allele Identifier:
CA2836388979
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49067799T>C , CM000676.2:g.49067799T>C | GRCh38 |
| NC_000014.8:g.49534517T>C , CM000676.1:g.49534517T>C | GRCh37 |
| NC_000014.7:g.48604267T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943837.1:n.222+1993A>G | ||
| XR_943837.2:n.345+1993A>G |