Canonical Allele Identifier:
CA2638676300
Gene:
Linked Data
gnomAD v4:
17-50211808-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50211808C>A , CM000679.2:g.50211808C>A | GRCh38 |
| NC_000017.10:g.48289169C>A , CM000679.1:g.48289169C>A | GRCh37 |
| NC_000017.9:g.45644168C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934838.1:n.43-2027C>A |