Canonical Allele Identifier:
CA1608913709
Gene:
Linked Data
dbSNP Id:
rs1471152131
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.8169499G>C , CM000668.2:g.8169499G>C | GRCh38 |
| NC_000006.11:g.8169732G>C , CM000668.1:g.8169732G>C | GRCh37 |
| NC_000006.10:g.8114731G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926440.1:n.82+11239G>C | ||
| XR_926441.1:n.189+1579G>C | ||
| XR_926442.1:n.82+11239G>C | ||
| XR_926443.1:n.82+11239G>C | ||
| XR_001743950.1:n.179+1579G>C | ||
| XR_926440.2:n.74+11239G>C | ||
| XR_926441.2:n.179+1579G>C | ||
| XR_926443.2:n.83+11239G>C |