Canonical Allele Identifier:
CA2767150100
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79549933A>G , CM000667.2:g.79549933A>G | GRCh38 |
| NC_000005.9:g.78845756A>G , CM000667.1:g.78845756A>G | GRCh37 |
| NC_000005.8:g.78881512A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948497.1:n.72+2289A>G | ||
| XR_948498.1:n.159+2096A>G | ||
| XR_948499.1:n.67+1631A>G | ||
| XR_948497.2:n.72+2289A>G | ||
| XR_948498.2:n.159+2096A>G | ||
| XR_948499.2:n.225+1631A>G |