ClinVar Variation:
COSMIC:
COSM904252
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003856 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00003804 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21876591C>T , CM000663.2:g.21876591C>T | GRCh38 |
| NC_000001.10:g.22203084C>T , CM000663.1:g.22203084C>T | GRCh37 |
| NC_000001.9:g.22075671C>T | NCBI36 |
| NG_016740.1:g.65667G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.2747G>A MANE Select | ENSP00000363827.3:p.Arg916Gln | |
| ENST00000374695.7:c.2747G>A | ENSP00000363827.3:p.Arg916Gln | |
| NM_001291860.1:c.2750G>A | NP_001278789.1:p.Arg917Gln | |
| NM_005529.6:c.2747G>A | NP_005520.4:p.Arg916Gln | |
| XM_006710594.2:c.2798G>A | XP_006710657.1:p.Arg933Gln | |
| XM_006710595.2:c.2750G>A | XP_006710658.1:p.Arg917Gln | |
| XM_006710596.2:c.2801G>A | XP_006710659.1:p.Arg934Gln | |
| XM_006710597.2:c.2747G>A | XP_006710660.1:p.Arg916Gln | |
| XM_011541317.1:c.2801G>A | XP_011539619.1:p.Arg934Gln | |
| XM_011541318.1:c.2801G>A | XP_011539620.1:p.Arg934Gln | |
| XM_011541319.1:c.2801G>A | XP_011539621.1:p.Arg934Gln | |
| XM_011541320.1:c.2801G>A | XP_011539622.1:p.Arg934Gln | |
| XM_011541321.1:c.2801G>A | XP_011539623.1:p.Arg934Gln | |
| XM_011541322.1:c.2801G>A | XP_011539624.1:p.Arg934Gln | |
| XM_011541318.2:c.2801G>A | XP_011539620.1:p.Arg934Gln | |
| XM_017001120.1:c.2942G>A | XP_016856609.1:p.Arg981Gln | |
| XM_017001121.1:c.2891G>A | XP_016856610.1:p.Arg964Gln | |
| XM_017001122.1:c.2888G>A | XP_016856611.1:p.Arg963Gln | |
| NM_005529.7:c.2747G>A MANE Select | NP_005520.4:p.Arg916Gln | |
| NM_001291860.2:c.2750G>A | NP_001278789.1:p.Arg917Gln |