Revel Score:
ENST00000418967
0.272
ENST00000435122
0.272
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005674 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00005761 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040692G>C , CM000668.2:g.32040692G>C | GRCh38 |
| NC_000006.11:g.32008469G>C , CM000668.1:g.32008469G>C | GRCh37 |
| NC_000006.10:g.32116448G>C | NCBI36 |
| NG_007941.2:g.7385G>C | |
| NG_008337.2:g.73683C>G | |
| NG_007941.3:g.7388G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1143G>C MANE Select | ENSP00000496625.1:p.Glu381Asp | |
| ENST00000418967.6:c.1143G>C | ENSP00000408860.2:p.Glu381Asp | |
| ENST00000435122.3:c.1053G>C | ENSP00000415043.2:p.Glu351Asp | |
| ENST00000479074.5:n.1284G>C | ||
| ENST00000479730.5:n.1259G>C | ||
| ENST00000483041.5:n.1312G>C | ||
| ENST00000486063.5:n.1122G>C | ||
| NM_000500.7:c.1143G>C | NP_000491.4:p.Glu381Asp | |
| NM_001128590.3:c.1053G>C | NP_001122062.3:p.Glu351Asp | |
| XM_011514314.1:c.738G>C | XP_011512616.1:p.Glu246Asp | |
| NM_000500.9:c.1143G>C MANE Select | NP_000491.4:p.Glu381Asp | |
| NM_001368143.1:c.738G>C | NP_001355072.1:p.Glu246Asp | |
| NM_001368144.1:c.738G>C | NP_001355073.1:p.Glu246Asp | |
| NM_001128590.4:c.1053G>C | NP_001122062.3:p.Glu351Asp | |
| NM_001368143.2:c.738G>C | NP_001355072.1:p.Glu246Asp | |
| NM_001368144.2:c.738G>C | NP_001355073.1:p.Glu246Asp |