COSMIC:
COSM3752397 (not active)
COSM3752398 (not active)
COSM3752399 (not active)
Revel Score:
ENST00000278456
0.042
ENST00000418331 (MANE Select)
0.042
ENST00000440289
0.042
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26321078 (MID)
Genomes Max Group AF
0.26316037 (EAS)
Exomes Max Group AF
0.26455692 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48125070G>A , CM000673.2:g.48125070G>A | GRCh38 |
| NC_000011.9:g.48146622G>A , CM000673.1:g.48146622G>A | GRCh37 |
| NC_000011.8:g.48103198G>A | NCBI36 |
| NG_012209.1:g.149513G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.1319G>A | ENSP00000514003.1:p.Arg440Gln | |
| ENST00000418331.7:c.977G>A MANE Select | ENSP00000400010.2:p.Arg326Gln | |
| ENST00000418331.6:c.977G>A | ENSP00000400010.2:p.Arg326Gln | |
| ENST00000440289.6:c.977G>A | ENSP00000409733.2:p.Arg326Gln | |
| ENST00000613246.4:c.977G>A | ENSP00000477933.1:p.Arg326Gln | |
| ENST00000615445.4:c.977G>A | ENSP00000479342.1:p.Arg326Gln | |
| NM_001098503.1:c.977G>A | NP_001091973.1:p.Arg326Gln | |
| NM_002843.3:c.977G>A | NP_002834.3:p.Arg326Gln | |
| XM_011520249.1:c.1010G>A | XP_011518551.1:p.Arg337Gln | |
| XR_930883.1:n.1327G>A | ||
| XM_017018083.1:c.1055G>A | XP_016873572.1:p.Arg352Gln | |
| XM_017018084.1:c.998G>A | XP_016873573.1:p.Arg333Gln | |
| XM_017018085.1:c.929G>A | XP_016873574.1:p.Arg310Gln | |
| XR_930883.2:n.1386G>A | ||
| NM_002843.4:c.977G>A MANE Select | NP_002834.3:p.Arg326Gln | |
| NM_001098503.2:c.977G>A | NP_001091973.1:p.Arg326Gln |