Canonical Allele Identifier:
CA2540072879
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.8169402T>C , CM000668.2:g.8169402T>C | GRCh38 |
| NC_000006.11:g.8169635T>C , CM000668.1:g.8169635T>C | GRCh37 |
| NC_000006.10:g.8114634T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926440.1:n.82+11142T>C | ||
| XR_926441.1:n.189+1482T>C | ||
| XR_926442.1:n.82+11142T>C | ||
| XR_926443.1:n.82+11142T>C | ||
| XR_001743950.1:n.179+1482T>C | ||
| XR_926440.2:n.74+11142T>C | ||
| XR_926441.2:n.179+1482T>C | ||
| XR_926443.2:n.83+11142T>C |