Canonical Allele Identifier:
CA11952318
Community Standard Title: NC_000005.10:g.169472983T>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.169472983T>C , CM000667.2:g.169472983T>C | GRCh38 |
| NC_000005.9:g.168899987T>C , CM000667.1:g.168899987T>C | GRCh37 |
| NC_000005.8:g.168832565T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_941200.1:n.408-13047A>G | |
| XR_941200.2:n.269-13047A>G | |
| XR_941203.1:n.231-1442T>C | |
| XR_941204.1:n.289-1442T>C | |
| XR_941204.2:n.664-1442T>C | |
| XR_941205.1:n.230+3743T>C | |
| XR_941205.2:n.230+3743T>C |