Canonical Allele Identifier:
CA16283754
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31811909 (AFR)
Genomes Max Group AF
0.31811909 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151653287C>T , CM000668.2:g.151653287C>T | GRCh38 |
| NC_000006.11:g.151974422C>T , CM000668.1:g.151974422C>T | GRCh37 |
| NC_000006.10:g.152016115C>T | NCBI36 |
| NG_008493.2:g.1597C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943115.1:n.2596+1491C>T |