Canonical Allele Identifier:
CA15148563
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48735125 (EAS)
Genomes Max Group AF
0.48735125 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184597314T>C , CM000664.2:g.184597314T>C | GRCh38 |
| NC_000002.11:g.185462041T>C , CM000664.1:g.185462041T>C | GRCh37 |
| NC_000002.10:g.185170286T>C | NCBI36 |
| NG_046950.1:g.3949T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011512285.1:c.619-938A>G | XP_011510587.1:n.619-938A>G | |
| XR_923658.1:n.946A>G | ||
| XR_923659.1:n.946A>G | ||
| XR_923660.1:n.947A>G | ||
| NR_171621.1:n.656-938A>G |