COSMIC:
COSN6654678 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39049432 (SAS)
Genomes Max Group AF
0.42388537 (EAS)
Exomes Max Group AF
0.39151589 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19716685G>A , CM000679.2:g.19716685G>A | GRCh38 |
| NC_000017.10:g.19619998G>A , CM000679.1:g.19619998G>A | GRCh37 |
| NC_000017.9:g.19560590G>A | NCBI36 |
| NG_052805.1:g.7295C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350657.9:c.-130C>T | ENSP00000338084.6:n.-130C>T | |
| ENST00000433844.2:c.-130C>T | ENSP00000391848.2:n.-130C>T | |
| ENST00000456947.3:n.2153C>T | ||
| ENST00000463318.5:n.869+1426C>T | ||
| ENST00000467379.1:n.759C>T | ||
| NM_001099646.1:c.-130C>T | NP_001093116.1:n.-130C>T | |
| NM_001256663.1:c.-130C>T | NP_001243592.1:n.-130C>T | |
| NM_152908.3:c.-130C>T | NP_690872.2:n.-130C>T | |
| XM_011523672.1:c.82-1468C>T | XP_011521974.1:n.82-1468C>T | |
| XM_011523673.1:c.-25+777C>T | XP_011521975.1:n.-25+777C>T | |
| XM_011523674.1:c.-25+777C>T | XP_011521976.1:n.-25+777C>T | |
| XR_243543.3:n.732+1426C>T | ||
| NR_135624.1:n.869+1426C>T | ||
| NR_135625.1:n.46C>T | ||
| XM_017024222.2:c.-25+1426C>T | XP_016879711.1:n.-25+1426C>T | |
| NR_135624.2:n.869+1426C>T |