COSMIC:
COSN17153412 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97404671 (AFR)
Genomes Max Group AF
0.9723782 (AFR)
Exomes Max Group AF
0.97411995 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52472410C>T , CM000665.2:g.52472410C>T | GRCh38 |
| NC_000003.11:g.52506426C>T , CM000665.1:g.52506426C>T | GRCh37 |
| NC_000003.10:g.52481466C>T | NCBI36 |
| NG_033112.1:g.21903C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345716.9:c.669+12C>T MANE Select | ENSP00000339958.4:n.669+12C>T | |
| ENST00000345716.8:c.669+12C>T | ENSP00000339958.4:n.669+12C>T | |
| ENST00000420808.2:c.669+12C>T | ENSP00000392484.2:n.669+12C>T | |
| ENST00000479054.5:c.669+12C>T | ENSP00000418232.1:n.669+12C>T | |
| ENST00000488380.5:c.669+12C>T | ENSP00000417812.1:n.669+12C>T | |
| ENST00000489895.5:n.462+12C>T | ||
| ENST00000490425.1:n.417+12C>T | ||
| NM_001276293.1:c.669+12C>T | NP_001263222.1:n.669+12C>T | |
| NM_001276294.1:c.669+12C>T | NP_001263223.1:n.669+12C>T | |
| NM_007184.3:c.669+12C>T | NP_009115.2:n.669+12C>T | |
| XM_011533317.1:c.-91+12C>T | XP_011531619.1:n.-91+12C>T | |
| XM_011533318.1:c.669+12C>T | XP_011531620.1:n.669+12C>T | |
| XM_005264839.3:c.-581+12C>T | XP_005264896.1:n.-581+12C>T | |
| XR_001739989.1:n.708+12C>T | ||
| NM_007184.4:c.669+12C>T MANE Select | NP_009115.3:n.669+12C>T | |
| NM_001276293.2:c.669+12C>T | NP_001263222.2:n.669+12C>T | |
| NM_001276294.2:c.669+12C>T | NP_001263223.2:n.669+12C>T |