Canonical Allele Identifier:
CA13141770
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13649466 (EAS)
Genomes Max Group AF
0.13649466 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6904790A>T , CM000672.2:g.6904790A>T | GRCh38 |
| NC_000010.10:g.6946752A>T , CM000672.1:g.6946752A>T | GRCh37 |
| NC_000010.9:g.6986758A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930623.1:n.940+14135T>A | ||
| XR_930624.1:n.938+14135T>A | ||
| XR_930625.1:n.939+14135T>A | ||
| XR_930626.1:n.935+14135T>A | ||
| XR_930627.1:n.940+14135T>A | ||
| XR_001747351.1:n.993+15639T>A | ||
| XR_001747352.1:n.993+15639T>A | ||
| XR_001747353.1:n.813+14135T>A | ||
| XR_001747354.1:n.883+30323T>A | ||
| XR_930623.2:n.1131+14135T>A | ||
| XR_930624.2:n.1131+14135T>A | ||
| XR_930625.2:n.1131+14135T>A | ||
| XR_930626.2:n.1131+14135T>A | ||
| XR_930627.2:n.1131+14135T>A |