Canonical Allele Identifier:
CA11800850
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31433384 (MID)
Genomes Max Group AF
0.28540293 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.124344158C>T , CM000666.2:g.124344158C>T | GRCh38 |
| NC_000004.11:g.125265313C>T , CM000666.1:g.125265313C>T | GRCh37 |
| NC_000004.10:g.125484763C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939178.1:n.236-1394G>A |