Canonical Allele Identifier:
CA220638176
Gene:
Linked Data
dbSNP Id:
rs562720482
gnomAD v2:
11-34781055-A-G
gnomAD v3:
11-34759508-A-G
gnomAD v4:
11-34759508-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34759508A>G , CM000673.2:g.34759508A>G | GRCh38 |
| NC_000011.9:g.34781055A>G , CM000673.1:g.34781055A>G | GRCh37 |
| NC_000011.8:g.34737631A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_428897.2:n.579+4901A>G | ||
| XR_931188.1:n.693+4901A>G | ||
| XR_931189.1:n.854+4901A>G | ||
| XR_931190.1:n.639+4901A>G | ||
| XR_931191.1:n.689+4901A>G | ||
| XR_001748174.1:n.855+4901A>G | ||
| XR_001748176.1:n.1016+4901A>G | ||
| XR_002957246.1:n.639+4901A>G |