Canonical Allele Identifier:
CA2651630669
Gene:
Linked Data
gnomAD v4:
20-2470880-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2470880A>C , CM000682.2:g.2470880A>C | GRCh38 |
| NC_000020.10:g.2451526A>C , CM000682.1:g.2451526A>C | GRCh37 |
| NC_000020.9:g.2399526A>C | NCBI36 |
| NG_042057.1:g.4974T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461548.1:c.305-3122T>G | ENSP00000456213.1:n.305-3122T>G |