Canonical Allele Identifier:
CA780102314
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49634583G>A , CM000680.2:g.49634583G>A | GRCh38 |
| NC_000018.9:g.47160953G>A , CM000680.1:g.47160953G>A | GRCh37 |
| NC_000018.8:g.45414951G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_935461.1:n.161+21714G>A | ||
| XR_001753446.1:n.897+21714G>A |