COSMIC:
COSM3755448 (not active)
COSM3755449 (not active)
Revel Score:
ENST00000301659 (MANE Select)
0.026
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53772319 (EAS)
Genomes Max Group AF
0.53586732 (EAS)
Exomes Max Group AF
0.55503854 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39965740G>A , CM000679.2:g.39965740G>A | GRCh38 |
| NC_000017.10:g.38121993G>A , CM000679.1:g.38121993G>A | GRCh37 |
| NC_000017.9:g.35375519G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301659.9:c.53G>A MANE Select | ENSP00000301659.4:p.Arg18Gln | |
| ENST00000635792.1:c.53G>A | ENSP00000490739.1:p.Arg18Gln | |
| ENST00000301659.8:c.53G>A | ENSP00000301659.4:p.Arg18Gln | |
| ENST00000577447.1:c.53G>A | ENSP00000461985.1:p.Arg18Gln | |
| NM_178171.4:c.53G>A | NP_835465.2:p.Arg18Gln | |
| XM_006721832.2:c.53G>A | XP_006721895.1:p.Arg18Gln | |
| XM_006721832.3:c.53G>A | XP_006721895.1:p.Arg18Gln | |
| XM_017024502.2:c.53G>A | XP_016879991.1:p.Arg18Gln | |
| XM_017024503.1:c.53G>A | XP_016879992.1:p.Arg18Gln | |
| XM_017024504.2:c.53G>A | XP_016879993.1:p.Arg18Gln | |
| NM_178171.5:c.53G>A MANE Select | NP_835465.2:p.Arg18Gln |