Canonical Allele Identifier:
CA12119183
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80148737 (AFR)
Genomes Max Group AF
0.80148737 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.93151837T>C , CM000667.2:g.93151837T>C | GRCh38 |
| NC_000005.9:g.92487543T>C , CM000667.1:g.92487543T>C | GRCh37 |
| NC_000005.8:g.92513299T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948569.1:n.130-1931A>G | ||
| XR_948569.2:n.197-1931A>G |