Revel Score:
ENST00000377833 (MANE Select)
0.939
ENST00000433666
0.939
ENST00000377823
0.939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17123643C>T , CM000672.2:g.17123643C>T | GRCh38 |
| NC_000010.10:g.17165642C>T , CM000672.1:g.17165642C>T | GRCh37 |
| NC_000010.9:g.17205648C>T | NCBI36 |
| NG_008967.1:g.11175G>A , LRG_540:g.11175G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.434G>A MANE Select | ENSP00000367064.4:p.Gly145Glu | |
| ENST00000377823.1:c.434G>A | ENSP00000367054.1:p.Gly145Glu | |
| ENST00000377833.8:c.434G>A | ENSP00000367064.4:p.Gly145Glu | |
| ENST00000433666.5:c.95G>A | ENSP00000415970.1:p.Gly32Glu | |
| NM_001081.3:c.434G>A , LRG_540t1:c.434G>A | NP_001072.2:p.Gly145Glu | |
| XM_011519708.1:c.434G>A | XP_011518010.1:p.Gly145Glu | |
| XM_011519708.2:c.434G>A | XP_011518010.1:p.Gly145Glu | |
| NM_001081.4:c.434G>A MANE Select | NP_001072.2:p.Gly145Glu |