Canonical Allele Identifier:
CA12127586
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51424561 (AFR)
Genomes Max Group AF
0.51424561 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.4831488T>C , CM000667.2:g.4831488T>C | GRCh38 |
| NC_000005.9:g.4831601T>C , CM000667.1:g.4831601T>C | GRCh37 |
| NC_000005.8:g.4884601T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001742557.1:n.407+18251A>G | ||
| XR_001742558.1:n.407+18251A>G | ||
| XR_001742559.1:n.407+18251A>G | ||
| XR_001742560.1:n.407+18251A>G | ||
| XR_001742561.1:n.407+18251A>G | ||
| XR_001742562.1:n.407+18251A>G | ||
| XR_001742563.1:n.407+18251A>G | ||
| XR_001742564.1:n.407+18251A>G | ||
| XR_001742565.1:n.407+18251A>G | ||
| XR_001742566.2:n.366-25640A>G | ||
| XR_001742567.1:n.466+10185A>G | ||
| XR_001742568.1:n.910A>G | ||
| XR_001742570.1:n.256+18251A>G | ||
| XR_001742571.1:n.851A>G | ||
| XR_001742572.1:n.576+18251A>G | ||
| XR_001742573.1:n.538+18251A>G | ||
| XR_001742574.1:n.270+18251A>G | ||
| XR_001742575.1:n.597+10185A>G | ||
| XR_001742576.1:n.635+10185A>G | ||
| XR_001742577.1:n.760A>G | ||
| XR_001742579.1:n.247+18251A>G | ||
| XR_001742580.1:n.751+18251A>G | ||
| XR_002956206.1:n.366-25640A>G | ||
| XR_002956207.1:n.366-25640A>G | ||
| XR_002956208.1:n.466+10185A>G |