COSMIC:
COSM5618452 (not active)
COSM5618453 (not active)
Revel Score:
ENST00000381769
0.064
ENST00000348335 (MANE Select)
0.064
ENST00000381771
0.064
ENST00000158166
0.064
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60003539 (SAS)
Genomes Max Group AF
0.59980937 (SAS)
Exomes Max Group AF
0.59913679 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3872554T>C , CM000679.2:g.3872554T>C | GRCh38 |
| NC_000017.10:g.3775848T>C , CM000679.1:g.3775848T>C | GRCh37 |
| NC_000017.9:g.3722597T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348335.7:c.1124A>G MANE Select | ENSP00000323118.3:p.Glu375Gly | |
| ENST00000158166.5:c.1238A>G | ENSP00000158166.5:p.Glu413Gly | |
| ENST00000348335.6:c.1124A>G | ENSP00000323118.3:p.Glu375Gly | |
| ENST00000381769.6:c.1205A>G | ENSP00000371188.2:p.Glu402Gly | |
| NM_032294.2:c.1124A>G | NP_115670.1:p.Glu375Gly | |
| NM_172206.1:c.1124A>G | NP_757343.1:p.Glu375Gly | |
| NM_172207.2:c.1238A>G | NP_757344.2:p.Glu413Gly | |
| XM_005256817.1:c.1238A>G | XP_005256874.1:p.Glu413Gly | |
| XM_006721588.2:c.1238A>G | XP_006721651.1:p.Glu413Gly | |
| XM_011524030.1:c.1238A>G | XP_011522332.1:p.Glu413Gly | |
| XM_011524031.1:c.1238A>G | XP_011522333.1:p.Glu413Gly | |
| XM_011524033.1:c.410A>G | XP_011522335.1:p.Glu137Gly | |
| XM_011524034.1:c.410A>G | XP_011522336.1:p.Glu137Gly | |
| XM_011524035.1:c.410A>G | XP_011522337.1:p.Glu137Gly | |
| XM_006721588.3:c.1238A>G | XP_006721651.1:p.Glu413Gly | |
| XM_011524031.3:c.1319A>G | XP_011522333.2:p.Glu440Gly | |
| XM_011524035.3:c.410A>G | XP_011522337.1:p.Glu137Gly | |
| XM_017025220.2:c.1124A>G | XP_016880709.1:p.Glu375Gly | |
| XM_024450996.1:c.1319A>G | XP_024306764.1:p.Glu440Gly | |
| XM_024450997.1:c.545A>G | XP_024306765.1:p.Glu182Gly | |
| XM_024450998.1:c.410A>G | XP_024306766.1:p.Glu137Gly | |
| XM_024450999.1:c.410A>G | XP_024306767.1:p.Glu137Gly | |
| XR_001752661.2:n.1414A>G | ||
| XR_001752662.2:n.2974A>G | ||
| NM_032294.3:c.1124A>G MANE Select | NP_115670.1:p.Glu375Gly | |
| NM_172206.2:c.1205A>G | NP_757343.2:p.Glu402Gly | |
| NM_172207.3:c.1238A>G | NP_757344.2:p.Glu413Gly |