Revel Score:
ENST00000299427 (MANE Select)
0.735
ENST00000533371
0.735
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616361C>A , CM000673.2:g.6616361C>A | GRCh38 |
| NC_000011.9:g.6637592C>A , CM000673.1:g.6637592C>A | GRCh37 |
| NC_000011.8:g.6594168C>A | NCBI36 |
| NG_008653.1:g.8101G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.915G>T | ENSP00000507321.1:p.Glu305Asp | |
| ENST00000299427.12:c.1029G>T MANE Select | ENSP00000299427.6:p.Glu343Asp | |
| ENST00000436873.7:c.313-287G>T | ||
| ENST00000533371.6:c.300G>T | ENSP00000437066.1:p.Glu100Asp | |
| ENST00000642892.1:c.300G>T | ENSP00000494165.1:p.Glu100Asp | |
| ENST00000643342.1:c.119G>T | ||
| ENST00000643439.1:c.*769G>T | ENSP00000495849.1:n.*769G>T | |
| ENST00000643479.1:n.1215G>T | ||
| ENST00000643516.1:c.538G>T | ||
| ENST00000644218.1:c.887-287G>T | ENSP00000493574.1:n.887-287G>T | |
| ENST00000644683.1:c.*482G>T | ENSP00000494085.1:n.*482G>T | |
| ENST00000644810.1:c.750G>T | ENSP00000495895.1:p.Glu250Asp | |
| ENST00000644831.1:n.1205G>T | ||
| ENST00000644933.1:c.300G>T | ENSP00000496133.1:p.Glu100Asp | |
| ENST00000645285.1:c.158-287G>T | ENSP00000495058.1:n.158-287G>T | |
| ENST00000645331.1:n.1552G>T | ||
| ENST00000645620.1:c.300G>T | ENSP00000493657.1:p.Glu100Asp | |
| ENST00000646691.1:n.122G>T | ||
| ENST00000646777.1:n.1362G>T | ||
| ENST00000647016.1:n.1509G>T | ||
| ENST00000647152.1:c.300G>T | ENSP00000495893.1:p.Glu100Asp | |
| ENST00000647209.1:c.*898G>T | ENSP00000495558.1:n.*898G>T | |
| ENST00000647346.1:n.2049G>T | ||
| ENST00000299427.10:c.1029G>T | ENSP00000299427.6:p.Glu343Asp | |
| ENST00000533371.5:c.300G>T | ENSP00000437066.1:p.Glu100Asp | |
| ENST00000611494.4:c.1029G>T | ENSP00000484546.1:p.Glu343Asp | |
| NM_000391.3:c.1029G>T | NP_000382.3:p.Glu343Asp | |
| NM_000391.4:c.1029G>T MANE Select | NP_000382.3:p.Glu343Asp |