Canonical Allele Identifier:
CA13734927
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21294484 (SAS)
Genomes Max Group AF
0.21294484 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.29960950C>G , CM000674.2:g.29960950C>G | GRCh38 |
| NC_000012.11:g.30113883C>G , CM000674.1:g.30113883C>G | GRCh37 |
| NC_000012.10:g.30005150C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_931473.1:n.314-17910G>C | ||
| XR_931474.1:n.314-17910G>C | ||
| XR_931475.1:n.135-17910G>C | ||
| XR_001749060.1:n.314-17910G>C | ||
| XR_001749061.1:n.314-17910G>C |