COSMIC:
COSM3765720 (not active)
Revel Score:
ENST00000538222
0.011
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67775504 (NFE)
Genomes Max Group AF
0.67500452 (NFE)
Exomes Max Group AF
0.67762516 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103135941A>G , CM000676.2:g.103135941A>G | GRCh38 |
| NC_000014.8:g.103602278A>G , CM000676.1:g.103602278A>G | GRCh37 |
| NC_000014.7:g.102672031A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333007.8:c.*581A>G | ENSP00000332326.1:n.*581A>G | |
| ENST00000560869.6:c.*581A>G MANE Select | ENSP00000452634.2:n.*581A>G | |
| ENST00000333007.5:c.*581A>G | ENSP00000332326.1:n.*581A>G | |
| ENST00000559255.1:c.669A>G | ||
| ENST00000560869.5:c.*581A>G | ENSP00000452634.1:n.*581A>G | |
| NM_006291.2:c.*581A>G | NP_006282.2:n.*581A>G | |
| XM_006720243.2:c.2089A>G | XP_006720306.1:p.Ile697Val | |
| XM_011537112.1:c.2089A>G | XP_011535414.1:p.Ile697Val | |
| XM_011537113.1:c.2089A>G | XP_011535415.1:p.Ile697Val | |
| XM_011537114.1:c.*581A>G | XP_011535416.1:n.*581A>G | |
| XM_006720243.3:c.2089A>G | XP_006720306.1:p.Ile697Val | |
| XM_011537112.2:c.2089A>G | XP_011535414.1:p.Ile697Val | |
| XM_011537113.2:c.2089A>G | XP_011535415.1:p.Ile697Val | |
| XM_011537114.2:c.*581A>G | XP_011535416.1:n.*581A>G | |
| XM_017021616.1:c.2089A>G | XP_016877105.1:p.Ile697Val | |
| NM_006291.3:c.*581A>G | NP_006282.2:n.*581A>G | |
| NM_001371220.1:c.2089A>G | NP_001358149.1:p.Ile697Val | |
| NM_001371221.1:c.2089A>G | NP_001358150.1:p.Ile697Val | |
| NM_006291.4:c.*581A>G MANE Select | NP_006282.2:n.*581A>G |