Canonical Allele Identifier:
CA2815053036
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2470978C>T , CM000682.2:g.2470978C>T | GRCh38 |
| NC_000020.10:g.2451624C>T , CM000682.1:g.2451624C>T | GRCh37 |
| NC_000020.9:g.2399624C>T | NCBI36 |
| NG_042057.1:g.4876G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461548.1:c.305-3220G>A | ENSP00000456213.1:n.305-3220G>A |