Canonical Allele Identifier:
CA13941769
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37957679 (AFR)
Genomes Max Group AF
0.37957679 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.68811487C>T , CM000676.2:g.68811487C>T | GRCh38 |
| NC_000014.8:g.69278204C>T , CM000676.1:g.69278204C>T | GRCh37 |
| NC_000014.7:g.68347957C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011537441.1:c.672+4815G>A | XP_011535743.1:n.672+4815G>A | |
| XM_011537442.1:c.672+4815G>A | XP_011535744.1:n.672+4815G>A | |
| XM_011537443.1:c.672+4815G>A | XP_011535745.1:n.672+4815G>A |