COSMIC:
COSN6668296 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65902409 (NFE)
Genomes Max Group AF
0.65902409 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33408159G>A , CM000681.2:g.33408159G>A | GRCh38 |
| NC_000019.9:g.33899065G>A , CM000681.1:g.33899065G>A | GRCh37 |
| NC_000019.8:g.38590905G>A | NCBI36 |
| NG_013358.1:g.118735C>T | |
| NG_013358.2:g.118735C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.818+3513C>T | ENSP00000468516.4:n.818+3513C>T | |
| ENST00000651901.2:c.818+3513C>T | ENSP00000498922.2:n.818+3513C>T | |
| ENST00000698359.1:c.773+3513C>T | ENSP00000513682.1:n.773+3513C>T | |
| ENST00000698360.1:c.869+3513C>T | ENSP00000513683.1:n.869+3513C>T | |
| ENST00000698361.1:c.818+3513C>T | ENSP00000513684.1:n.818+3513C>T | |
| ENST00000698362.1:c.818+3513C>T | ENSP00000513685.1:n.818+3513C>T | |
| ENST00000698363.1:n.881+3513C>T | ||
| ENST00000698364.1:n.881+3513C>T | ||
| ENST00000698365.1:n.881+3513C>T | ||
| ENST00000698426.1:c.497+3513C>T | ENSP00000513713.1:n.497+3513C>T | |
| ENST00000698427.1:c.860+3513C>T | ENSP00000513714.1:n.860+3513C>T | |
| ENST00000698428.1:c.497+3513C>T | ENSP00000513715.1:n.497+3513C>T | |
| ENST00000698429.1:n.701+3513C>T | ||
| ENST00000698430.1:c.1068+3513C>T | ||
| ENST00000698431.1:c.555+3513C>T | ENSP00000513717.1:n.555+3513C>T | |
| ENST00000698432.1:c.627+3513C>T | ||
| ENST00000698433.1:n.280+3513C>T | ||
| ENST00000698434.1:n.305+3513C>T | ||
| ENST00000698435.1:c.506+3513C>T | ENSP00000513719.1:n.506+3513C>T | |
| ENST00000244137.12:c.818+3513C>T MANE Select | ENSP00000244137.5:n.818+3513C>T | |
| ENST00000588328.6:c.807+3513C>T | ||
| ENST00000590731.6:n.493+3513C>T | ||
| ENST00000651901.1:c.814+3513C>T | ||
| ENST00000244137.11:c.818+3513C>T | ENSP00000244137.5:n.818+3513C>T | |
| ENST00000397032.8:c.695+3513C>T | ENSP00000380226.3:n.695+3513C>T | |
| ENST00000436370.7:c.626+3513C>T | ENSP00000391890.2:n.626+3513C>T | |
| ENST00000588328.5:c.309+3513C>T | ||
| ENST00000588719.5:n.453+3513C>T | ||
| ENST00000590731.5:n.493+3513C>T | ||
| ENST00000593163.5:n.983+3513C>T | ||
| ENST00000609145.5:c.251+3513C>T | ENSP00000476514.1:n.251+3513C>T | |
| NM_000285.3:c.818+3513C>T | NP_000276.2:n.818+3513C>T | |
| NM_001166056.1:c.695+3513C>T | NP_001159528.1:n.695+3513C>T | |
| NM_001166057.1:c.626+3513C>T | NP_001159529.1:n.626+3513C>T | |
| NM_000285.4:c.818+3513C>T MANE Select | NP_000276.2:n.818+3513C>T | |
| NM_001166056.2:c.695+3513C>T | NP_001159528.1:n.695+3513C>T | |
| NM_001166057.2:c.626+3513C>T | NP_001159529.1:n.626+3513C>T |