Canonical Allele Identifier:
CA13249467
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22264856 (AFR)
Genomes Max Group AF
0.22264856 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94759304C>T , CM000672.2:g.94759304C>T | GRCh38 |
| NC_000010.10:g.96519061C>T , CM000672.1:g.96519061C>T | GRCh37 |
| NC_000010.9:g.96509051C>T | NCBI36 |
| NG_008384.2:g.1599C>T | |
| NG_008384.3:g.1624C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464755.1:c.932-15754C>T | ENSP00000483243.1:n.932-15754C>T |