COSMIC:
COSM3760680 (not active)
Revel Score:
ENST00000309042 (MANE Select)
0.071
ENST00000358605
0.071
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08942256 (AFR)
Genomes Max Group AF
0.08838036 (AFR)
Exomes Max Group AF
0.08905543 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.56930934G>T , CM000666.2:g.56930934G>T | GRCh38 |
| NC_000004.11:g.57797100G>T , CM000666.1:g.57797100G>T | GRCh37 |
| NC_000004.10:g.57491857G>T | NCBI36 |
| NG_029447.1:g.28059G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309042.12:c.2076G>T MANE Select | ENSP00000311816.7:p.Glu692Asp | |
| ENST00000514063.2:c.*1103G>T | ENSP00000501649.1:n.*1103G>T | |
| ENST00000611211.2:c.*79-1134G>T | ENSP00000479151.2:n.*79-1134G>T | |
| ENST00000616975.5:c.*1103G>T | ENSP00000484058.1:n.*1103G>T | |
| ENST00000619101.5:c.*1103G>T | ENSP00000484836.2:n.*1103G>T | |
| ENST00000638187.2:c.1992G>T | ENSP00000492006.2:p.Glu664Asp | |
| ENST00000640168.2:c.898+19398G>T | ENSP00000490969.1:n.898+19398G>T | |
| ENST00000640343.2:c.982+11064G>T | ENSP00000492813.1:n.982+11064G>T | |
| ENST00000675105.1:c.2076G>T | ENSP00000502313.1:p.Glu692Asp | |
| ENST00000675341.1:c.1629G>T | ENSP00000502488.1:p.Glu543Asp | |
| ENST00000309042.11:c.2076G>T | ENSP00000311816.7:p.Glu692Asp | |
| ENST00000619101.4:c.2076G>T | ENSP00000484836.1:p.Glu692Asp | |
| ENST00000622863.4:c.587-860G>T | ENSP00000481650.1:n.587-860G>T | |
| NM_001193508.1:c.2076G>T | NP_001180437.1:p.Glu692Asp | |
| NM_005612.4:c.2076G>T | NP_005603.3:p.Glu692Asp | |
| XM_005265760.2:c.1110G>T | XP_005265817.1:p.Glu370Asp | |
| XM_011534401.1:c.2076G>T | XP_011532703.1:p.Glu692Asp | |
| XM_011534402.1:c.1098G>T | XP_011532704.1:p.Glu366Asp | |
| NM_001363453.1:c.2076G>T | NP_001350382.1:p.Glu692Asp | |
| XM_017008527.1:c.1992G>T | XP_016864016.1:p.Glu664Asp | |
| NM_005612.5:c.2076G>T MANE Select | NP_005603.3:p.Glu692Asp | |
| NM_001363453.2:c.2076G>T | NP_001350382.1:p.Glu692Asp |