Canonical Allele Identifier:
CA13959696
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25225303 (SAS)
Genomes Max Group AF
0.25225303 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53606140C>T , CM000676.2:g.53606140C>T | GRCh38 |
| NC_000014.8:g.54072858C>T , CM000676.1:g.54072858C>T | GRCh37 |
| NC_000014.7:g.53142608C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943876.1:n.54-81059C>T | ||
| XR_943877.1:n.54-81059C>T | ||
| XR_943878.1:n.54-81059C>T | ||
| XR_943879.1:n.54-81059C>T | ||
| XR_001750969.1:n.4200-81059C>T | ||
| XR_001750974.1:n.3896-81059C>T | ||
| XR_001750975.2:n.183-81059C>T | ||
| XR_001750976.1:n.4200-81059C>T | ||
| XR_943876.2:n.4200-81059C>T | ||
| XR_943877.3:n.4200-81059C>T | ||
| XR_943879.2:n.4200-81059C>T |