COSMIC:
COSM274575 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00114354 (MID)
Genomes Max Group AF
0.00010174 (NFE)
Exomes Max Group AF
0.00107036 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150927975G>A , CM000665.2:g.150927975G>A | GRCh38 |
| NC_000003.11:g.150645762G>A , CM000665.1:g.150645762G>A | GRCh37 |
| NC_000003.10:g.152128452G>A | NCBI36 |
| NG_009168.1:g.50025C>T , LRG_700:g.50025C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.660C>T MANE Select | ENSP00000322280.1:p.Asp220= | |
| ENST00000295911.6:c.342+90C>T | ENSP00000295911.2:n.342+90C>T | |
| ENST00000327047.5:c.660C>T | ENSP00000322280.1:p.Asp220= | |
| ENST00000328863.8:c.699C>T | ENSP00000329158.4:p.Asp233= | |
| ENST00000562308.5:c.104+13607C>T | ||
| ENST00000565169.1:c.162+13607C>T | ||
| ENST00000569170.5:c.162+13607C>T | ||
| NM_001195794.1:c.699C>T , LRG_700t1:c.699C>T | NP_001182723.1:p.Asp233= | |
| NM_001256819.1:c.*274C>T | NP_001243748.1:n.*274C>T | |
| NM_052995.2:c.342+90C>T , LRG_700t2:c.342+90C>T | NP_443721.1:n.342+90C>T | |
| NM_174878.2:c.660C>T | NP_777367.1:p.Asp220= | |
| NR_046380.2:n.1141C>T | ||
| XR_924167.1:n.972C>T | ||
| NM_001256819.2:c.*274C>T | NP_001243748.1:n.*274C>T | |
| NM_174878.3:c.660C>T MANE Select | NP_777367.1:p.Asp220= | |
| NR_046380.3:n.869C>T |