Revel Score:
ENST00000335135
0.754
ENST00000259090
0.754
ENST00000532059 (MANE Select)
0.754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11708695A>T , CM000670.2:g.11708695A>T | GRCh38 |
| NC_000008.10:g.11566204A>T , CM000670.1:g.11566204A>T | GRCh37 |
| NC_000008.9:g.11603613A>T | NCBI36 |
| NG_008177.2:g.36777A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622443.3:c.383A>T | ENSP00000482268.2:p.Glu128Val | |
| ENST00000532059.6:c.383A>T MANE Select | ENSP00000435712.1:p.Glu128Val | |
| ENST00000335135.8:c.383A>T | ENSP00000334458.4:p.Glu128Val | |
| ENST00000526716.5:c.-6+4391A>T | ENSP00000435347.1:n.-6+4391A>T | |
| ENST00000528712.5:c.-6+7917A>T | ENSP00000435043.1:n.-6+7917A>T | |
| ENST00000532059.5:c.383A>T | ENSP00000435712.1:p.Glu128Val | |
| ENST00000622443.2:c.380A>T | ENSP00000482268.1:p.Glu127Val | |
| NM_001308093.1:c.383A>T | NP_001295022.1:p.Glu128Val | |
| NM_001308094.1:c.-6+7917A>T | NP_001295023.1:n.-6+7917A>T | |
| NM_002052.3:c.383A>T | NP_002043.2:p.Glu128Val | |
| NM_002052.4:c.383A>T | NP_002043.2:p.Glu128Val | |
| XM_005272385.3:c.383A>T | XP_005272442.1:p.Glu128Val | |
| XM_005272386.1:c.383A>T | XP_005272443.1:p.Glu128Val | |
| XM_006716248.1:c.383A>T | XP_006716311.1:p.Glu128Val | |
| XM_011543817.1:c.383A>T | XP_011542119.1:p.Glu128Val | |
| XM_011543818.1:c.383A>T | XP_011542120.1:p.Glu128Val | |
| XM_005272385.4:c.383A>T | XP_005272442.1:p.Glu128Val | |
| XM_011543817.3:c.383A>T | XP_011542119.1:p.Glu128Val | |
| XM_011543818.2:c.383A>T | XP_011542120.1:p.Glu128Val | |
| XM_017013312.2:c.383A>T | XP_016868801.1:p.Glu128Val | |
| NM_001308093.3:c.383A>T MANE Select | NP_001295022.1:p.Glu128Val | |
| NM_001308094.2:c.-6+7917A>T | NP_001295023.1:n.-6+7917A>T | |
| NM_001374273.1:c.-3+4391A>T | NP_001361202.1:n.-3+4391A>T | |
| NM_001374274.1:c.-3+681A>T | NP_001361203.1:n.-3+681A>T | |
| NM_002052.5:c.383A>T | NP_002043.2:p.Glu128Val |