COSMIC:
COSN6611110 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80344381 (SAS)
Genomes Max Group AF
0.80344381 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69328516A>G , CM000673.2:g.69328516A>G | GRCh38 |
| NC_000011.9:g.69143284A>G , CM000673.1:g.69143284A>G | GRCh37 |
| NC_000011.8:g.68852465A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000535660.1:n.94+11591A>G | ||
| ENST00000544008.1:n.427-12994A>G | ||
| ENST00000544781.5:n.156-12994A>G | ||
| XR_950270.1:n.88+11591A>G | ||
| XR_950271.1:n.512-12994A>G |