Revel Score:
ENST00000370274 (MANE Select)
0.927
ENST00000440023
0.927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.152869040A>G , CM000685.2:g.152869040A>G | GRCh38 |
| NC_000023.10:g.152037584A>G , CM000685.1:g.152037584A>G | GRCh37 |
| NC_000023.9:g.151788240A>G | NCBI36 |
| NG_009163.1:g.43074A>G | |
| NG_009163.2:g.43074A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370274.8:c.1046A>G MANE Select | ENSP00000359297.3:p.Tyr349Cys | |
| ENST00000370274.7:c.1046A>G | ENSP00000359297.3:p.Tyr349Cys | |
| ENST00000440023.5:c.1046A>G | ENSP00000391854.1:p.Tyr349Cys | |
| NM_001129765.1:c.1046A>G | NP_001123237.1:p.Tyr349Cys | |
| NM_015922.2:c.1046A>G | NP_057006.1:p.Tyr349Cys | |
| XM_011531178.1:c.1046A>G | XP_011529480.1:p.Tyr349Cys | |
| XM_011531178.2:c.1046A>G | XP_011529480.1:p.Tyr349Cys | |
| XM_017029564.1:c.1094A>G | XP_016885053.1:p.Tyr365Cys | |
| NM_015922.3:c.1046A>G MANE Select | NP_057006.1:p.Tyr349Cys | |
| NM_001129765.2:c.1046A>G | NP_001123237.1:p.Tyr349Cys |