Canonical Allele Identifier:
CA15450696
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15920105 (NFE)
Genomes Max Group AF
0.15920105 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29850791T>C , CM000668.2:g.29850791T>C | GRCh38 |
| NC_000006.11:g.29818568T>C , CM000668.1:g.29818568T>C | GRCh37 |
| NC_000006.10:g.29926547T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647952.1:n.2321-162A>G | ||
| XR_926680.1:n.207-162A>G | ||
| XR_926681.1:n.207-162A>G | ||
| XR_926682.1:n.206+1531A>G | ||
| XR_926680.2:n.207-162A>G | ||
| XR_926681.2:n.207-162A>G | ||
| XR_926682.2:n.206+1531A>G |