Canonical Allele Identifier:
CA2814739473
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50837471G>C , CM000681.2:g.50837471G>C | GRCh38 |
| NC_000019.9:g.51340727G>C , CM000681.1:g.51340727G>C | GRCh37 |
| NC_000019.8:g.56032539G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_131203.1:n.213+6178G>C | ||
| NR_131205.1:n.230+6178G>C | ||
| XR_936030.1:n.298+6178G>C | ||
| XR_936031.1:n.298+6178G>C | ||
| XR_936032.1:n.298+6178G>C | ||
| XR_936033.1:n.294+6178G>C | ||
| XR_936035.1:n.281+6178G>C |