Revel Score:
ENST00000271651 (MANE Select)
0.756
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150796858C>A , CM000663.2:g.150796858C>A | GRCh38 |
| NC_000001.10:g.150769334C>A , CM000663.1:g.150769334C>A | GRCh37 |
| NC_000001.9:g.149035958C>A | NCBI36 |
| NG_011848.1:g.16479G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.931G>T MANE Select | ENSP00000271651.3:p.Ala311Ser | |
| ENST00000443913.2:c.1108G>T | ENSP00000405083.2:p.Ala370Ser | |
| ENST00000480670.2:n.4000G>T | ||
| ENST00000676680.1:c.*225G>T | ENSP00000503270.1:n.*225G>T | |
| ENST00000676716.1:c.808G>T | ENSP00000504737.1:p.Ala270Ser | |
| ENST00000676751.1:c.825G>T | ENSP00000502964.1:p.Trp275Cys | |
| ENST00000676824.1:c.931G>T | ENSP00000504176.1:p.Ala311Ser | |
| ENST00000676966.1:c.931G>T | ENSP00000503723.1:p.Ala311Ser | |
| ENST00000676970.1:c.943G>T | ENSP00000503832.1:p.Ala315Ser | |
| ENST00000677330.1:n.2757G>T | ||
| ENST00000677611.1:n.783G>T | ||
| ENST00000677887.1:c.973G>T | ENSP00000503876.1:p.Ala325Ser | |
| ENST00000678275.1:c.*823G>T | ENSP00000504796.1:n.*823G>T | |
| ENST00000678337.1:c.967G>T | ENSP00000504759.1:p.Ala323Ser | |
| ENST00000678725.1:n.2178G>T | ||
| ENST00000679090.1:n.1786G>T | ||
| ENST00000679148.1:n.3893G>T | ||
| ENST00000679171.1:n.3562G>T | ||
| ENST00000679178.1:n.642G>T | ||
| ENST00000679260.1:c.712G>T | ENSP00000504534.1:p.Ala238Ser | |
| ENST00000271651.7:c.931G>T | ENSP00000271651.3:p.Ala311Ser | |
| NM_000396.3:c.931G>T | NP_000387.1:p.Ala311Ser | |
| NM_000396.4:c.931G>T MANE Select | NP_000387.1:p.Ala311Ser |