Canonical Allele Identifier:
CA12214738
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30257801 (NFE)
Genomes Max Group AF
0.30257801 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.156336708G>A , CM000668.2:g.156336708G>A | GRCh38 |
| NC_000006.11:g.156657842G>A , CM000668.1:g.156657842G>A | GRCh37 |
| NC_000006.10:g.156699534G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943138.1:n.207-13813G>A | ||
| XR_943139.1:n.207-13813G>A | ||
| XR_943140.1:n.207-13813G>A | ||
| XR_943141.1:n.116-13813G>A | ||
| XR_943146.1:n.18+37033C>T | ||
| XR_943136.2:n.505-13813G>A | ||
| XR_943139.2:n.596-13813G>A | ||
| XR_943140.2:n.596-13813G>A |