Revel Score:
ENST00000447502
0.013
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00710307 (EAS)
Genomes Max Group AF
0.00255402 (EAS)
Exomes Max Group AF
0.00755007 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42752582G>A , CM000663.2:g.42752582G>A | GRCh38 |
| NC_000001.10:g.43218253G>A , CM000663.1:g.43218253G>A | GRCh37 |
| NC_000001.9:g.42990840G>A | NCBI36 |
| NG_008123.1:g.19503C>T , LRG_5:g.19503C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296388.10:c.1428C>T MANE Select | ENSP00000296388.5:p.Gly476= | |
| ENST00000236040.8:c.1428C>T | ENSP00000236040.4:p.Gly476= | |
| ENST00000296388.9:c.1428C>T | ENSP00000296388.5:p.Gly476= | |
| ENST00000397054.7:c.1428C>T | ENSP00000380245.3:p.Gly476= | |
| ENST00000431412.3:c.250C>T | ||
| ENST00000447502.2:n.202C>T | ||
| ENST00000460031.5:n.1620C>T | ||
| ENST00000481465.3:n.151C>T | ||
| ENST00000495874.5:n.1708C>T | ||
| NM_001146289.1:c.1428C>T , LRG_5t2:c.1428C>T | NP_001139761.1:p.Gly476= | |
| NM_001243246.1:c.1428C>T , LRG_5t3:c.1428C>T | NP_001230175.1:p.Gly476= | |
| NM_022356.3:c.1428C>T , LRG_5t1:c.1428C>T | NP_071751.3:p.Gly476= | |
| XM_005271110.2:c.420C>T | XP_005271167.1:p.Gly140= | |
| XM_011541947.1:c.453C>T | XP_011540249.1:p.Gly151= | |
| XM_011541948.1:c.453C>T | XP_011540250.1:p.Gly151= | |
| XM_011541949.1:c.450C>T | XP_011540251.1:p.Gly150= | |
| XM_017002051.2:c.453C>T | XP_016857540.1:p.Gly151= | |
| XM_017002052.2:c.450C>T | XP_016857541.1:p.Gly150= | |
| XR_946739.2:n.1553C>T | ||
| NM_022356.4:c.1428C>T MANE Select | NP_071751.3:p.Gly476= | |
| NM_001146289.2:c.1428C>T | NP_001139761.1:p.Gly476= | |
| NM_001243246.2:c.1428C>T | NP_001230175.1:p.Gly476= |