Canonical Allele Identifier:
CA2767150098
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79549837G>T , CM000667.2:g.79549837G>T | GRCh38 |
| NC_000005.9:g.78845660G>T , CM000667.1:g.78845660G>T | GRCh37 |
| NC_000005.8:g.78881416G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948497.1:n.72+2193G>T | ||
| XR_948498.1:n.159+2000G>T | ||
| XR_948499.1:n.67+1535G>T | ||
| XR_948497.2:n.72+2193G>T | ||
| XR_948498.2:n.159+2000G>T | ||
| XR_948499.2:n.225+1535G>T |