Canonical Allele Identifier:
CA2516580101
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50837591G>T , CM000681.2:g.50837591G>T | GRCh38 |
| NC_000019.9:g.51340847G>T , CM000681.1:g.51340847G>T | GRCh37 |
| NC_000019.8:g.56032659G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_131203.1:n.213+6298G>T | ||
| NR_131205.1:n.230+6298G>T | ||
| XR_936030.1:n.298+6298G>T | ||
| XR_936031.1:n.298+6298G>T | ||
| XR_936032.1:n.298+6298G>T | ||
| XR_936033.1:n.294+6298G>T | ||
| XR_936035.1:n.281+6298G>T |