Revel Score:
ENST00000374552 (MANE Select)
0.929
ENST00000374553
0.929
ENST00000524573
0.929
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70035365A>C , CM000685.2:g.70035365A>C | GRCh38 |
| NC_000023.10:g.69255215A>C , CM000685.1:g.69255215A>C | GRCh37 |
| NC_000023.9:g.69171940A>C | NCBI36 |
| NG_009809.1:g.424305A>C | |
| NG_009809.2:g.424299A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.932A>C MANE Select | ENSP00000363680.4:p.Tyr311Ser | |
| ENST00000374552.8:c.932A>C | ENSP00000363680.4:p.Tyr311Ser | |
| ENST00000374553.6:c.926A>C | ENSP00000363681.2:p.Tyr309Ser | |
| ENST00000524573.5:c.917A>C | ENSP00000432585.1:p.Tyr306Ser | |
| ENST00000616899.1:c.536A>C | ENSP00000481963.1:p.Tyr179Ser | |
| NM_001005609.1:c.926A>C | NP_001005609.1:p.Tyr309Ser | |
| NM_001005612.2:c.917A>C | NP_001005612.2:p.Tyr306Ser | |
| NM_001399.4:c.932A>C | NP_001390.1:p.Tyr311Ser | |
| XM_006724630.2:c.923A>C | XP_006724693.1:p.Tyr308Ser | |
| XM_017029336.1:c.890A>C | XP_016884825.1:p.Tyr297Ser | |
| NM_001399.5:c.932A>C MANE Select | NP_001390.1:p.Tyr311Ser | |
| NM_001005609.2:c.926A>C | NP_001005609.1:p.Tyr309Ser | |
| NM_001005612.3:c.917A>C | NP_001005612.2:p.Tyr306Ser |