COSMIC:
COSN19725348 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54357893 (EAS)
Genomes Max Group AF
0.53889656 (EAS)
Exomes Max Group AF
0.53639917 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33265726C>T , CM000683.2:g.33265726C>T | GRCh38 |
| NC_000021.8:g.34638031C>T , CM000683.1:g.34638031C>T | GRCh37 |
| NC_000021.7:g.33559901C>T | NCBI36 |
| NG_012089.1:g.4360C>T , LRG_152:g.4360C>T | |
| NG_016003.1:g.40801C>T | |
| NG_016003.2:g.40801C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433395.7:c.710-2668C>T | ENSP00000388223.3:n.710-2668C>T | |
| ENST00000682009.1:c.710-286C>T | ENSP00000506919.1:n.710-286C>T | |
| ENST00000683116.1:c.*138-286C>T | ENSP00000508125.1:n.*138-286C>T | |
| ENST00000646150.1:c.*137+2089C>T | ENSP00000496248.1:n.*137+2089C>T | |
| ENST00000432231.1:c.310-10870C>T | ||
| ENST00000433395.6:c.433-2668C>T | ||
| NR_038974.1:n.375G>A |