Canonical Allele Identifier:
CA13770811
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21011374 (AFR)
Genomes Max Group AF
0.21011374 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.119551841A>G , CM000674.2:g.119551841A>G | GRCh38 |
| NC_000012.11:g.119989646A>G , CM000674.1:g.119989646A>G | GRCh37 |
| NC_000012.10:g.118474029A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945439.1:n.891+1707T>C | ||
| XR_945440.1:n.952+1707T>C | ||
| XR_945441.1:n.902+1707T>C | ||
| XR_945443.1:n.162+1707T>C | ||
| XR_945444.1:n.248+1707T>C | ||
| XR_001749346.2:n.1160+1707T>C | ||
| XR_945439.2:n.1162+1707T>C | ||
| XR_945440.2:n.1223+1707T>C | ||
| XR_945443.2:n.359+1707T>C | ||
| XR_945444.2:n.1299+1707T>C |