COSMIC:
COSN9457414 (not active)
COSN15628093 (not active)
COSN15629759 (not active)
COSN15630615 (not active)
COSN15632420 (not active)
COSN15633466 (not active)
COSN15634367 (not active)
COSN15636011 (not active)
COSN15636891 (not active)
COSN15638590 (not active)
COSN15639447 (not active)
COSN15640272 (not active)
COSN15641894 (not active)
COSN15643545 (not active)
COSN15644389 (not active)
COSN15646050 (not active)
COSN15646895 (not active)
Revel Score:
ENST00000533968
0.076
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72864007 (AFR)
Genomes Max Group AF
0.72566143 (AFR)
Exomes Max Group AF
0.72760784 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47358789G>T , CM000673.2:g.47358789G>T | GRCh38 |
| NC_000011.9:g.47380340G>T , CM000673.1:g.47380340G>T | GRCh37 |
| NC_000011.8:g.47336916G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713542.1:c.493+55C>A | ENSP00000518838.1:n.493+55C>A | |
| ENST00000713543.1:c.232+55C>A | ENSP00000518839.1:n.232+55C>A | |
| ENST00000378538.8:c.493+55C>A MANE Select | ENSP00000367799.4:n.493+55C>A | |
| ENST00000227163.8:c.496+55C>A | ENSP00000227163.4:n.496+55C>A | |
| ENST00000378538.7:c.493+55C>A | ENSP00000367799.3:n.493+55C>A | |
| ENST00000533030.1:c.46-3243C>A | ENSP00000443865.1:n.46-3243C>A | |
| ENST00000533968.1:c.548C>A | ENSP00000438846.1:p.Ala183Asp | |
| NM_001080547.1:c.496+55C>A | NP_001074016.1:n.496+55C>A | |
| NM_003120.2:c.493+55C>A | NP_003111.2:n.493+55C>A | |
| XM_011520305.1:c.232+55C>A | XP_011518607.1:n.232+55C>A | |
| XM_011520306.1:c.232+55C>A | XP_011518608.1:n.232+55C>A | |
| XM_011520307.1:c.232+55C>A | XP_011518609.1:n.232+55C>A | |
| XM_011520308.1:c.232+55C>A | XP_011518610.1:n.232+55C>A | |
| XM_017018173.1:c.232+55C>A | XP_016873662.1:n.232+55C>A | |
| NM_001080547.2:c.496+55C>A | NP_001074016.1:n.496+55C>A | |
| NM_003120.3:c.493+55C>A MANE Select | NP_003111.2:n.493+55C>A |