Canonical Allele Identifier:
CA913923278
Gene:
Linked Data
gnomAD v2:
14-51323684-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50856966C>T , CM000676.2:g.50856966C>T | GRCh38 |
| NC_000014.8:g.51323684C>T , CM000676.1:g.51323684C>T | GRCh37 |
| NC_000014.7:g.50393434C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_943848.1:n.282+1132G>A | ||
| XR_943848.2:n.643+1132G>A |