Revel Score:
ENST00000397054
0.077
ENST00000236040
0.077
ENST00000296388 (MANE Select)
0.077
ENST00000372526
0.077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42766891C>A , CM000663.2:g.42766891C>A | GRCh38 |
| NC_000001.10:g.43232562C>A , CM000663.1:g.43232562C>A | GRCh37 |
| NC_000001.9:g.43005149C>A | NCBI36 |
| NG_008123.1:g.5194G>T , LRG_5:g.5194G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296388.10:c.81G>T MANE Select | ENSP00000296388.5:p.Glu27Asp | |
| ENST00000236040.8:c.81G>T | ENSP00000236040.4:p.Glu27Asp | |
| ENST00000296388.9:c.81G>T | ENSP00000296388.5:p.Glu27Asp | |
| ENST00000372526.2:c.81G>T | ENSP00000361604.2:p.Glu27Asp | |
| ENST00000397054.7:c.81G>T | ENSP00000380245.3:p.Glu27Asp | |
| ENST00000460031.5:n.99G>T | ||
| ENST00000492956.1:n.127G>T | ||
| ENST00000495874.5:n.132G>T | ||
| NM_001146289.1:c.81G>T , LRG_5t2:c.81G>T | NP_001139761.1:p.Glu27Asp | |
| NM_001243246.1:c.81G>T , LRG_5t3:c.81G>T | NP_001230175.1:p.Glu27Asp | |
| NM_022356.3:c.81G>T , LRG_5t1:c.81G>T | NP_071751.3:p.Glu27Asp | |
| XR_946739.1:n.138G>T | ||
| XM_017002051.2:c.-950G>T | XP_016857540.1:n.-950G>T | |
| XM_017002052.2:c.-950G>T | XP_016857541.1:n.-950G>T | |
| XR_946739.2:n.138G>T | ||
| NM_022356.4:c.81G>T MANE Select | NP_071751.3:p.Glu27Asp | |
| NM_001146289.2:c.81G>T | NP_001139761.1:p.Glu27Asp | |
| NM_001243246.2:c.81G>T | NP_001230175.1:p.Glu27Asp |