Canonical Allele Identifier:
CA13439870
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16127023 (NFE)
Genomes Max Group AF
0.16127023 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.30361352C>T , CM000673.2:g.30361352C>T | GRCh38 |
| NC_000011.9:g.30382899C>T , CM000673.1:g.30382899C>T | GRCh37 |
| NC_000011.8:g.30339475C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_428889.2:n.1468G>A | ||
| XR_931154.1:n.1468G>A | ||
| XR_001748160.1:n.1562G>A | ||
| XR_001748161.1:n.1491G>A | ||
| XR_001748162.1:n.1491G>A | ||
| XR_428889.3:n.1491G>A | ||
| XR_931154.2:n.1491G>A |