COSMIC:
COSN15322282 (not active)
COSN19622574 (not active)
COSN20281907 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33770106 (EAS)
Genomes Max Group AF
0.35115115 (EAS)
Exomes Max Group AF
0.33313378 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4475616C>T , CM000673.2:g.4475616C>T | GRCh38 |
| NC_000011.9:g.4496846C>T , CM000673.1:g.4496846C>T | GRCh37 |
| NC_000011.8:g.4453422C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641797.3:n.1415C>T | ||
| ENST00000685350.1:n.540+6073C>T | ||
| ENST00000690302.1:n.380-44047C>T | ||
| ENST00000690343.1:n.1220C>T | ||
| ENST00000691418.1:n.366-43131C>T | ||
| ENST00000692525.1:n.1358C>T | ||
| ENST00000693118.1:n.366-28492C>T | ||
| ENST00000641797.2:n.1415C>T | ||
| ENST00000531655.1:n.804C>T |