Canonical Allele Identifier:
CA14165871
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56258953 (AFR)
Genomes Max Group AF
0.56258953 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.94968608A>G , CM000677.2:g.94968608A>G | GRCh38 |
| NC_000015.9:g.95511837A>G , CM000677.1:g.95511837A>G | GRCh37 |
| NC_000015.8:g.93312841A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614581.1:n.238-52436A>G | ||
| ENST00000615751.4:n.75-52436A>G | ||
| ENST00000618377.1:n.331-50188A>G | ||
| ENST00000618611.4:n.194-52436A>G | ||
| ENST00000621842.4:n.78-52436A>G | ||
| ENST00000648065.1:n.829-25566A>G |