Revel Score:
ENST00000357654 (MANE Select)
0.721
ENST00000412061
0.721
ENST00000354071
0.721
ENST00000352993
0.721
ENST00000346315
0.721
ENST00000351666
0.721
ENST00000309486
0.721
ENST00000468300
0.721
ENST00000393691
0.721
ENST00000471181
0.721
ENST00000493795
0.721
ENST00000491747
0.721
gnomAD v2:
gnomAD v3:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43057131T>A , CM000679.2:g.43057131T>A | GRCh38 |
| NC_000017.10:g.41209148T>A , CM000679.1:g.41209148T>A | GRCh37 |
| NC_000017.9:g.38462674T>A | NCBI36 |
| NG_005905.2:g.160853A>T , LRG_292:g.160853A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5195A>T | ENSP00000417241.2:p.Asp1732Val | |
| ENST00000470026.6:c.5198A>T | ENSP00000419274.2:p.Asp1733Val | |
| ENST00000473961.6:c.5072A>T | ENSP00000420201.2:p.Asp1691Val | |
| ENST00000476777.6:c.5192A>T | ENSP00000417554.2:p.Asp1731Val | |
| ENST00000477152.6:c.5120A>T | ENSP00000419988.2:p.Asp1707Val | |
| ENST00000478531.6:c.1886A>T | ENSP00000420412.2:p.Asp629Val | |
| ENST00000489037.2:c.5120A>T | ENSP00000420781.2:p.Asp1707Val | |
| ENST00000493919.6:c.1748A>T | ENSP00000418819.2:p.Asp583Val | |
| ENST00000494123.6:c.5198A>T | ENSP00000419103.2:p.Asp1733Val | |
| ENST00000497488.2:c.4310A>T | ENSP00000418986.2:p.Asp1437Val | |
| ENST00000618469.2:c.5198A>T | ENSP00000478114.2:p.Asp1733Val | |
| ENST00000634433.2:c.5075A>T | ENSP00000489431.2:p.Asp1692Val | |
| ENST00000644379.2:c.5264A>T | ENSP00000496570.2:p.Asp1755Val | |
| ENST00000644555.2:c.1748A>T | ENSP00000494614.2:p.Asp583Val | |
| ENST00000652672.2:c.5057A>T | ENSP00000498906.2:p.Asp1686Val | |
| ENST00000484087.6:c.1760A>T | ENSP00000419481.2:p.Asp587Val | |
| ENST00000357654.9:c.5198A>T MANE Select | ENSP00000350283.3:p.Asp1733Val | |
| ENST00000471181.7:c.5261A>T | ENSP00000418960.2:p.Asp1754Val | |
| ENST00000644379.1:c.1585A>T | ||
| ENST00000352993.7:c.1772A>T | ENSP00000312236.5:p.Asp591Val | |
| ENST00000357654.7:c.5198A>T | ENSP00000350283.3:p.Asp1733Val | |
| ENST00000461221.5:c.*4981A>T | ENSP00000418548.1:n.*4981A>T | |
| ENST00000468300.5:c.1886A>T | ENSP00000417148.1:p.Asp629Val | |
| ENST00000471181.6:c.5261A>T | ENSP00000418960.2:p.Asp1754Val | |
| ENST00000491747.6:c.1886A>T | ENSP00000420705.2:p.Asp629Val | |
| ENST00000493795.5:c.5057A>T | ENSP00000418775.1:p.Asp1686Val | |
| ENST00000586385.5:c.128A>T | ENSP00000465818.1:p.Asp43Val | |
| ENST00000591534.5:c.671A>T | ENSP00000467329.1:p.Asp224Val | |
| ENST00000591849.5:c.-98-6941A>T | ENSP00000465347.1:n.-98-6941A>T | |
| NM_007294.3:c.5198A>T , LRG_292t1:c.5198A>T | NP_009225.1:p.Asp1733Val | |
| NM_007297.3:c.5057A>T | NP_009228.2:p.Asp1686Val | |
| NM_007298.3:c.1886A>T | NP_009229.2:p.Asp629Val | |
| NM_007299.3:c.1886A>T | NP_009230.2:p.Asp629Val | |
| NM_007300.3:c.5261A>T | NP_009231.2:p.Asp1754Val | |
| NR_027676.1:n.5334A>T | ||
| NM_007294.4:c.5198A>T MANE Select | NP_009225.1:p.Asp1733Val | |
| NM_007297.4:c.5057A>T | NP_009228.2:p.Asp1686Val | |
| NM_007299.4:c.1886A>T | NP_009230.2:p.Asp629Val | |
| NM_007300.4:c.5261A>T | NP_009231.2:p.Asp1754Val | |
| NR_027676.2:n.5375A>T |