Canonical Allele Identifier:
CA12367634
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1622853 (NFE)
Genomes Max Group AF
0.1622853 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29856106A>G , CM000668.2:g.29856106A>G | GRCh38 |
| NC_000006.11:g.29823883A>G , CM000668.1:g.29823883A>G | GRCh37 |
| NC_000006.10:g.29931862A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647952.1:n.2155+1240T>C | ||
| XR_926680.1:n.41+1240T>C | ||
| XR_926681.1:n.41+1240T>C | ||
| XR_926682.1:n.41+1240T>C | ||
| XR_926680.2:n.41+1240T>C | ||
| XR_926681.2:n.41+1240T>C | ||
| XR_926682.2:n.41+1240T>C |