Canonical Allele Identifier:
CA2651630741
Gene:
Linked Data
gnomAD v4:
20-2470954-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2470954A>G , CM000682.2:g.2470954A>G | GRCh38 |
| NC_000020.10:g.2451600A>G , CM000682.1:g.2451600A>G | GRCh37 |
| NC_000020.9:g.2399600A>G | NCBI36 |
| NG_042057.1:g.4900T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461548.1:c.305-3196T>C | ENSP00000456213.1:n.305-3196T>C |