Revel Score:
ENST00000374552 (MANE Select)
0.927
ENST00000374553
0.927
ENST00000524573
0.927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70035364T>C , CM000685.2:g.70035364T>C | GRCh38 |
| NC_000023.10:g.69255214T>C , CM000685.1:g.69255214T>C | GRCh37 |
| NC_000023.9:g.69171939T>C | NCBI36 |
| NG_009809.1:g.424304T>C | |
| NG_009809.2:g.424298T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.931T>C MANE Select | ENSP00000363680.4:p.Tyr311His | |
| ENST00000374552.8:c.931T>C | ENSP00000363680.4:p.Tyr311His | |
| ENST00000374553.6:c.925T>C | ENSP00000363681.2:p.Tyr309His | |
| ENST00000524573.5:c.916T>C | ENSP00000432585.1:p.Tyr306His | |
| ENST00000616899.1:c.535T>C | ENSP00000481963.1:p.Tyr179His | |
| NM_001005609.1:c.925T>C | NP_001005609.1:p.Tyr309His | |
| NM_001005612.2:c.916T>C | NP_001005612.2:p.Tyr306His | |
| NM_001399.4:c.931T>C | NP_001390.1:p.Tyr311His | |
| XM_006724630.2:c.922T>C | XP_006724693.1:p.Tyr308His | |
| XM_017029336.1:c.889T>C | XP_016884825.1:p.Tyr297His | |
| NM_001399.5:c.931T>C MANE Select | NP_001390.1:p.Tyr311His | |
| NM_001005609.2:c.925T>C | NP_001005609.1:p.Tyr309His | |
| NM_001005612.3:c.916T>C | NP_001005612.2:p.Tyr306His |