COSMIC:
COSN165080 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66489176 (AFR)
Genomes Max Group AF
0.64759464 (AFR)
Exomes Max Group AF
0.68286223 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79224C>T , CM000678.2:g.79224C>T | GRCh38 |
| NC_000016.9:g.129223C>T , CM000678.1:g.129223C>T | GRCh37 |
| NC_000016.8:g.69223C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356432.8:c.25-201C>T MANE Select | ENSP00000348809.4:n.25-201C>T | |
| ENST00000219431.4:c.-69C>T | ENSP00000219431.4:n.-69C>T | |
| ENST00000356432.7:c.25-201C>T | ENSP00000348809.3:n.25-201C>T | |
| ENST00000397817.5:c.-12-201C>T | ENSP00000380918.1:n.-12-201C>T | |
| ENST00000436333.5:c.-12-201C>T | ENSP00000388097.1:n.-12-201C>T | |
| ENST00000475280.1:n.91-201C>T | ||
| NM_001015052.2:c.25-201C>T | NP_001015052.1:n.25-201C>T | |
| NM_001015054.2:c.-12-201C>T | NP_001015054.1:n.-12-201C>T | |
| NM_002434.3:c.-69C>T | NP_002425.2:n.-69C>T | |
| XM_024450282.1:c.-69C>T | XP_024306050.1:n.-69C>T | |
| NM_001015052.3:c.25-201C>T MANE Select | NP_001015052.1:n.25-201C>T | |
| NM_002434.4:c.-69C>T | NP_002425.2:n.-69C>T | |
| NM_001015054.3:c.-12-201C>T | NP_001015054.1:n.-12-201C>T |