Revel Score:
ENST00000356592
0.891
ENST00000414552
0.891
ENST00000361925
0.891
ENST00000393933
0.891
ENST00000522053
0.891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162103949A>T , CM000667.2:g.162103949A>T | GRCh38 |
| NC_000005.9:g.161530955A>T , CM000667.1:g.161530955A>T | GRCh37 |
| NC_000005.8:g.161463533A>T | NCBI36 |
| NG_009290.1:g.41308A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.654A>T | ||
| ENST00000361925.9:c.812A>T | ENSP00000354651.5:p.Asp271Val | |
| ENST00000522053.2:n.583A>T | ||
| ENST00000523372.2:c.775A>T | ||
| ENST00000638552.1:c.407A>T | ENSP00000491763.1:p.Asp136Val | |
| ENST00000638660.1:c.407A>T | ENSP00000492869.1:p.Asp136Val | |
| ENST00000638772.1:c.692A>T | ENSP00000491557.1:p.Asp231Val | |
| ENST00000638782.1:n.754A>T | ||
| ENST00000638877.1:c.569A>T | ||
| ENST00000639046.1:c.83A>T | ENSP00000492659.1:p.Asp28Val | |
| ENST00000639111.2:c.692A>T | ENSP00000492125.2:p.Asp231Val | |
| ENST00000639213.2:c.692A>T MANE Select | ENSP00000491909.2:p.Asp231Val | |
| ENST00000639278.1:c.620A>T | ENSP00000491958.1:p.Asp207Val | |
| ENST00000639384.1:c.692A>T | ENSP00000491240.1:p.Asp231Val | |
| ENST00000639424.1:c.107+35843A>T | ENSP00000491245.1:n.107+35843A>T | |
| ENST00000639683.1:c.626A>T | ENSP00000492581.1:p.Asp209Val | |
| ENST00000639975.1:c.626A>T | ENSP00000492096.1:p.Asp209Val | |
| ENST00000640574.1:c.407A>T | ENSP00000491582.1:p.Asp136Val | |
| ENST00000640739.1:n.3223A>T | ||
| ENST00000640910.1:c.130A>T | ||
| ENST00000640985.1:c.605A>T | ENSP00000492293.1:p.Asp202Val | |
| ENST00000641017.1:c.692A>T | ENSP00000493461.1:p.Asp231Val | |
| ENST00000356592.7:c.692A>T | ENSP00000349000.3:p.Asp231Val | |
| ENST00000361925.8:c.692A>T | ENSP00000354651.4:p.Asp231Val | |
| ENST00000414552.6:c.812A>T | ENSP00000410732.2:p.Asp271Val | |
| ENST00000522053.1:c.407A>T | ENSP00000430182.1:p.Asp136Val | |
| ENST00000522990.5:c.*294A>T | ENSP00000430732.1:n.*294A>T | |
| ENST00000523372.1:c.813A>T | ENSP00000430124.1:n.813A>T | |
| NM_000816.3:c.692A>T | NP_000807.2:p.Asp231Val | |
| NM_198903.2:c.812A>T | NP_944493.2:p.Asp271Val | |
| NM_198904.2:c.692A>T | NP_944494.1:p.Asp231Val | |
| NM_001375339.1:c.683A>T | NP_001362268.1:p.Asp228Val | |
| NM_001375340.1:c.692A>T | NP_001362269.1:p.Asp231Val | |
| NM_001375341.1:c.692A>T | NP_001362270.1:p.Asp231Val | |
| NM_001375342.1:c.692A>T | NP_001362271.1:p.Asp231Val | |
| NM_001375343.1:c.812A>T | NP_001362272.1:p.Asp271Val | |
| NM_001375344.1:c.692A>T | NP_001362273.1:p.Asp231Val | |
| NM_001375345.1:c.626A>T | NP_001362274.1:p.Asp209Val | |
| NM_001375346.1:c.626A>T | NP_001362275.1:p.Asp209Val | |
| NM_001375347.1:c.605A>T | NP_001362276.1:p.Asp202Val | |
| NM_001375348.1:c.272A>T | NP_001362277.1:p.Asp91Val | |
| NM_001375349.1:c.407A>T | NP_001362278.1:p.Asp136Val | |
| NM_001375350.1:c.272A>T | NP_001362279.1:p.Asp91Val | |
| NM_198904.3:c.692A>T | NP_944494.1:p.Asp231Val | |
| NM_198904.4:c.692A>T MANE Select | NP_944494.1:p.Asp231Val |