Revel Score:
ENST00000377104 (MANE Select)
0.186
ENST00000377102
0.186
ENST00000541655
0.186
ENST00000540649
0.186
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.80337596T>G , CM000675.2:g.80337596T>G | GRCh38 |
| NC_000013.10:g.80911731T>G , CM000675.1:g.80911731T>G | GRCh37 |
| NC_000013.9:g.79809732T>G | NCBI36 |
| NG_050650.1:g.8520A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377104.4:c.110A>C MANE Select | ENSP00000366308.3:p.Gln37Pro | |
| ENST00000377102.5:c.110A>C | ENSP00000366306.1:p.Gln37Pro | |
| ENST00000377104.3:c.110A>C | ENSP00000366308.3:p.Gln37Pro | |
| ENST00000540649.2:c.110A>C | ENSP00000439027.2:p.Gln37Pro | |
| NM_005842.2:c.110A>C | NP_005833.1:p.Gln37Pro | |
| XM_005266217.1:c.110A>C | XP_005266274.1:p.Gln37Pro | |
| XM_006719753.1:c.110A>C | XP_006719816.1:p.Gln37Pro | |
| XM_011534867.1:c.110A>C | XP_011533169.1:p.Gln37Pro | |
| NM_001318536.1:c.110A>C | NP_001305465.1:p.Gln37Pro | |
| NM_001318537.1:c.110A>C | NP_001305466.1:p.Gln37Pro | |
| NM_001318538.1:c.110A>C | NP_001305467.1:p.Gln37Pro | |
| NM_005842.3:c.110A>C | NP_005833.1:p.Gln37Pro | |
| NM_005842.4:c.110A>C MANE Select | NP_005833.1:p.Gln37Pro |