Canonical Allele Identifier:
CA2651630760
Gene:
Linked Data
gnomAD v4:
20-2470975-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2470975G>A , CM000682.2:g.2470975G>A | GRCh38 |
| NC_000020.10:g.2451621G>A , CM000682.1:g.2451621G>A | GRCh37 |
| NC_000020.9:g.2399621G>A | NCBI36 |
| NG_042057.1:g.4879C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461548.1:c.305-3217C>T | ENSP00000456213.1:n.305-3217C>T |