Canonical Allele Identifier:
CA176517183
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23168595 (SAS)
Genomes Max Group AF
0.23168595 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47036078T>G , CM000670.2:g.47036078T>G | GRCh38 |
| NC_000008.10:g.47947701T>G , CM000670.1:g.47947701T>G | GRCh37 |
| NC_000008.9:g.48066866T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928841.1:n.171+6836T>G | ||
| XR_928842.1:n.172-5029T>G | ||
| XR_928841.2:n.240+6836T>G | ||
| XR_928842.2:n.241-5029T>G |