Canonical Allele Identifier:
CA238381915
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00361776 (AFR)
Genomes Max Group AF
0.00361776 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68247752T>C , CM000674.2:g.68247752T>C | GRCh38 |
| NC_000012.11:g.68641532T>C , CM000674.1:g.68641532T>C | GRCh37 |
| NC_000012.10:g.66927799T>C | NCBI36 |
| NG_060763.1:g.10853A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945055.1:n.265-16906T>C | ||
| XR_002957418.1:n.281-16906T>C |