COSMIC:
COSM3751619 (not active)
COSM3751620 (not active)
Revel Score:
ENST00000306010
0.073
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1333368 (NFE)
Genomes Max Group AF
0.12668264 (NFE)
Exomes Max Group AF
0.13362251 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129766906A>G , CM000672.2:g.129766906A>G | GRCh38 |
| NC_000010.10:g.131565170A>G , CM000672.1:g.131565170A>G | GRCh37 |
| NC_000010.9:g.131455160A>G | NCBI36 |
| NG_052673.1:g.304723A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.626A>G | ENSP00000302111.7:p.Lys209Arg | |
| ENST00000651593.1:c.533A>G MANE Select | ENSP00000498729.1:p.Lys178Arg | |
| ENST00000306010.7:c.626A>G | ENSP00000302111.7:p.Lys209Arg | |
| NM_002412.3:c.626A>G | NP_002403.2:p.Lys209Arg | |
| NM_002412.4:c.626A>G | NP_002403.2:p.Lys209Arg | |
| XM_005252682.2:c.533A>G | XP_005252739.1:p.Lys178Arg | |
| XM_006717863.2:c.356A>G | XP_006717926.1:p.Lys119Arg | |
| XM_011539817.1:c.542A>G | XP_011538119.1:p.Lys181Arg | |
| NM_002412.5:c.533A>G MANE Select | NP_002403.3:p.Lys178Arg | |
| XM_017016275.1:c.356A>G | XP_016871764.1:p.Lys119Arg |