Canonical Allele Identifier:
CA2638676320
Gene:
Linked Data
gnomAD v4:
17-50211840-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50211840T>C , CM000679.2:g.50211840T>C | GRCh38 |
| NC_000017.10:g.48289201T>C , CM000679.1:g.48289201T>C | GRCh37 |
| NC_000017.9:g.45644200T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934838.1:n.43-1995T>C |