Revel Score:
ENST00000406381
0.533
ENST00000541774
0.533
ENST00000445658
0.533
ENST00000269571 (MANE Select)
0.533
ENST00000540147
0.533
ENST00000540042
0.533
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39711955C>T , CM000679.2:g.39711955C>T | GRCh38 |
| NC_000017.10:g.37868208C>T , CM000679.1:g.37868208C>T | GRCh37 |
| NC_000017.9:g.35121734C>T | NCBI36 |
| NG_007503.1:g.28816C>T , LRG_724:g.28816C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.929C>T MANE Select | ENSP00000269571.4:p.Ser310Phe | |
| ENST00000269571.9:c.929C>T | ENSP00000269571.4:p.Ser310Phe | |
| ENST00000406381.6:c.839C>T | ENSP00000385185.2:p.Ser280Phe | |
| ENST00000445658.6:c.101C>T | ENSP00000404047.2:p.Ser34Phe | |
| ENST00000541774.5:c.884C>T | ENSP00000446466.1:p.Ser295Phe | |
| ENST00000578199.5:c.839C>T | ENSP00000462808.1:p.Ser280Phe | |
| ENST00000578373.5:c.*719C>T | ENSP00000463427.1:n.*719C>T | |
| ENST00000578502.1:c.154C>T | ||
| ENST00000582648.5:c.253C>T | ENSP00000462024.1:p.Pro85Ser | |
| ENST00000582788.5:n.418C>T | ||
| ENST00000583038.5:n.1621C>T | ||
| ENST00000584450.5:c.929C>T | ENSP00000463714.1:p.Ser310Phe | |
| ENST00000584601.5:c.839C>T | ENSP00000462438.1:p.Ser280Phe | |
| ENST00000584908.5:n.941C>T | ||
| NM_001005862.2:c.839C>T , LRG_724t1:c.839C>T | NP_001005862.1:p.Ser280Phe | |
| NM_001289936.1:c.884C>T , LRG_724t4:c.884C>T | NP_001276865.1:p.Ser295Phe | |
| NM_001289937.1:c.929C>T | NP_001276866.1:p.Ser310Phe | |
| NM_001289938.1:c.839C>T , LRG_724t3:c.839C>T | NP_001276867.1:p.Ser280Phe | |
| NM_004448.3:c.929C>T , LRG_724t2:c.929C>T | NP_004439.2:p.Ser310Phe | |
| NR_110535.1:n.1253C>T | ||
| XM_024450641.1:c.1067C>T | XP_024306409.1:p.Ser356Phe | |
| XM_024450642.1:c.1022C>T | XP_024306410.1:p.Ser341Phe | |
| XM_024450643.1:c.977C>T | XP_024306411.1:p.Ser326Phe | |
| NM_001005862.3:c.839C>T | NP_001005862.1:p.Ser280Phe | |
| NM_001289936.2:c.884C>T | NP_001276865.1:p.Ser295Phe | |
| NM_001289937.2:c.929C>T | NP_001276866.1:p.Ser310Phe | |
| NM_001289938.2:c.839C>T | NP_001276867.1:p.Ser280Phe | |
| NM_001382782.1:c.839C>T | NP_001369711.1:p.Ser280Phe | |
| NM_001382783.1:c.839C>T | NP_001369712.1:p.Ser280Phe | |
| NM_001382784.1:c.929C>T | NP_001369713.1:p.Ser310Phe | |
| NM_001382785.1:c.929C>T | NP_001369714.1:p.Ser310Phe | |
| NM_001382786.1:c.929C>T | NP_001369715.1:p.Ser310Phe | |
| NM_001382787.1:c.1004C>T | NP_001369716.1:p.Ser335Phe | |
| NM_001382788.1:c.929C>T | NP_001369717.1:p.Ser310Phe | |
| NM_001382789.1:c.929C>T | NP_001369718.1:p.Ser310Phe | |
| NM_001382790.1:c.929C>T | NP_001369719.1:p.Ser310Phe | |
| NM_001382791.1:c.920C>T | NP_001369720.1:p.Ser307Phe | |
| NM_001382792.1:c.929C>T | NP_001369721.1:p.Ser310Phe | |
| NM_001382793.1:c.929C>T | NP_001369722.1:p.Ser310Phe | |
| NM_001382794.1:c.929C>T | NP_001369723.1:p.Ser310Phe | |
| NM_001382795.1:c.929C>T | NP_001369724.1:p.Ser310Phe | |
| NM_001382796.1:c.929C>T | NP_001369725.1:p.Ser310Phe | |
| NM_001382797.1:c.929C>T | NP_001369726.1:p.Ser310Phe | |
| NM_001382798.1:c.929C>T | NP_001369727.1:p.Ser310Phe | |
| NM_001382799.1:c.749C>T | NP_001369728.1:p.Ser250Phe | |
| NM_001382800.1:c.929C>T | NP_001369729.1:p.Ser310Phe | |
| NM_001382801.1:c.929C>T | NP_001369730.1:p.Ser310Phe | |
| NM_001382802.1:c.671C>T | NP_001369731.1:p.Ser224Phe | |
| NM_001382803.1:c.929C>T | NP_001369732.1:p.Ser310Phe | |
| NM_001382804.1:c.101C>T | NP_001369733.1:p.Ser34Phe | |
| NM_001382805.1:c.929C>T | NP_001369734.1:p.Ser310Phe | |
| NM_001382806.1:c.929C>T | NP_001369735.1:p.Ser310Phe | |
| NM_004448.4:c.929C>T MANE Select | NP_004439.2:p.Ser310Phe | |
| NR_110535.2:n.1167C>T |