Canonical Allele Identifier:
CA2651630720
Gene:
Linked Data
gnomAD v4:
20-2470931-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2470931G>T , CM000682.2:g.2470931G>T | GRCh38 |
| NC_000020.10:g.2451577G>T , CM000682.1:g.2451577G>T | GRCh37 |
| NC_000020.9:g.2399577G>T | NCBI36 |
| NG_042057.1:g.4923C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461548.1:c.305-3173C>A | ENSP00000456213.1:n.305-3173C>A |