Revel Score:
ENST00000359232 (MANE Select)
0.670
ENST00000554912
0.670
ENST00000539621
0.670
ENST00000556505
0.670
ENST00000555927
0.670
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001544 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001471 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100292533C>T , CM000676.2:g.100292533C>T | GRCh38 |
| NC_000014.8:g.100758870C>T , CM000676.1:g.100758870C>T | GRCh37 |
| NC_000014.7:g.99828623C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359232.8:c.662G>A MANE Select | ENSP00000352167.3:p.Gly221Glu | |
| ENST00000359232.7:c.662G>A | ENSP00000352167.3:p.Gly221Glu | |
| ENST00000392908.7:c.*180G>A | ENSP00000376640.3:n.*180G>A | |
| ENST00000554224.5:c.*626G>A | ENSP00000451573.1:n.*626G>A | |
| ENST00000554912.1:c.464G>A | ENSP00000450913.1:p.Gly155Glu | |
| ENST00000555927.5:c.464G>A | ENSP00000452078.1:p.Gly155Glu | |
| ENST00000556505.5:c.464G>A | ENSP00000452446.1:p.Gly155Glu | |
| ENST00000556715.6:c.*626G>A | ENSP00000451952.1:n.*626G>A | |
| NM_001039355.2:c.662G>A | NP_001034444.1:p.Gly221Glu | |
| NM_001291813.1:c.464G>A | NP_001278742.1:p.Gly155Glu | |
| NM_001291814.1:c.464G>A | NP_001278743.1:p.Gly155Glu | |
| NM_152333.3:c.464G>A | NP_689546.1:p.Gly155Glu | |
| XM_006720038.1:c.803G>A | XP_006720101.1:p.Gly268Glu | |
| XM_006720039.2:c.779G>A | XP_006720102.1:p.Gly260Glu | |
| XM_011536443.1:c.797G>A | XP_011534745.1:p.Gly266Glu | |
| XM_011536444.1:c.644G>A | XP_011534746.1:p.Gly215Glu | |
| XM_011536445.1:c.464G>A | XP_011534747.1:p.Gly155Glu | |
| XM_011536446.1:c.464G>A | XP_011534748.1:p.Gly155Glu | |
| XM_011536447.1:c.464G>A | XP_011534749.1:p.Gly155Glu | |
| XM_011536448.1:c.464G>A | XP_011534750.1:p.Gly155Glu | |
| XR_943390.1:n.1597G>A | ||
| NM_001352820.1:c.464G>A | NP_001339749.1:p.Gly155Glu | |
| NM_001352821.1:c.821G>A | NP_001339750.1:p.Gly274Glu | |
| NM_001352822.1:c.464G>A | NP_001339751.1:p.Gly155Glu | |
| NM_001352823.1:c.464G>A | NP_001339752.1:p.Gly155Glu | |
| XM_006720038.2:c.803G>A | XP_006720101.1:p.Gly268Glu | |
| XM_006720039.4:c.779G>A | XP_006720102.1:p.Gly260Glu | |
| XM_011536447.2:c.464G>A | XP_011534749.1:p.Gly155Glu | |
| XM_011536448.2:c.464G>A | XP_011534750.1:p.Gly155Glu | |
| XM_024449479.1:c.644G>A | XP_024305247.1:p.Gly215Glu | |
| XR_001750155.1:n.1123G>A | ||
| NM_001039355.3:c.662G>A MANE Select | NP_001034444.1:p.Gly221Glu | |
| NM_001291813.2:c.464G>A | NP_001278742.1:p.Gly155Glu | |
| NM_001291814.2:c.464G>A | NP_001278743.1:p.Gly155Glu | |
| NM_001352820.2:c.464G>A | NP_001339749.1:p.Gly155Glu | |
| NM_001352821.2:c.821G>A | NP_001339750.1:p.Gly274Glu | |
| NM_001352822.2:c.464G>A | NP_001339751.1:p.Gly155Glu | |
| NM_001352823.2:c.464G>A | NP_001339752.1:p.Gly155Glu | |
| NM_152333.4:c.464G>A | NP_689546.1:p.Gly155Glu |