Revel Score:
ENST00000406381
0.230
ENST00000541774
0.230
ENST00000445658
0.230
ENST00000269571 (MANE Select)
0.230
ENST00000540147
0.230
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727784C>T , CM000679.2:g.39727784C>T | GRCh38 |
| NC_000017.10:g.37884037C>T , CM000679.1:g.37884037C>T | GRCh37 |
| NC_000017.9:g.35137563C>T | NCBI36 |
| NG_007503.1:g.44645C>T , LRG_724:g.44645C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3508C>T MANE Select | ENSP00000269571.4:p.Pro1170Ser | |
| ENST00000269571.9:c.3508C>T | ENSP00000269571.4:p.Pro1170Ser | |
| ENST00000406381.6:c.3418C>T | ENSP00000385185.2:p.Pro1140Ser | |
| ENST00000445658.6:c.2680C>T | ENSP00000404047.2:p.Pro894Ser | |
| ENST00000541774.5:c.3463C>T | ENSP00000446466.1:p.Pro1155Ser | |
| ENST00000578373.5:c.*3298C>T | ENSP00000463427.1:n.*3298C>T | |
| ENST00000584450.5:c.*87C>T | ENSP00000463714.1:n.*87C>T | |
| ENST00000584601.5:c.3418C>T | ENSP00000462438.1:p.Pro1140Ser | |
| NM_001005862.2:c.3418C>T , LRG_724t1:c.3418C>T | NP_001005862.1:p.Pro1140Ser | |
| NM_001289936.1:c.3463C>T , LRG_724t4:c.3463C>T | NP_001276865.1:p.Pro1155Ser | |
| NM_001289937.1:c.*87C>T | NP_001276866.1:n.*87C>T | |
| NM_004448.3:c.3508C>T , LRG_724t2:c.3508C>T | NP_004439.2:p.Pro1170Ser | |
| NR_110535.1:n.3832C>T | ||
| XM_024450641.1:c.3646C>T | XP_024306409.1:p.Pro1216Ser | |
| XM_024450642.1:c.3601C>T | XP_024306410.1:p.Pro1201Ser | |
| XM_024450643.1:c.3556C>T | XP_024306411.1:p.Pro1186Ser | |
| NM_001005862.3:c.3418C>T | NP_001005862.1:p.Pro1140Ser | |
| NM_001289936.2:c.3463C>T | NP_001276865.1:p.Pro1155Ser | |
| NM_001289937.2:c.*87C>T | NP_001276866.1:n.*87C>T | |
| NM_001382782.1:c.3418C>T | NP_001369711.1:p.Pro1140Ser | |
| NM_001382783.1:c.3418C>T | NP_001369712.1:p.Pro1140Ser | |
| NM_001382784.1:c.3625C>T | NP_001369713.1:p.Pro1209Ser | |
| NM_001382785.1:c.3610C>T | NP_001369714.1:p.Pro1204Ser | |
| NM_001382786.1:c.3589C>T | NP_001369715.1:p.Pro1197Ser | |
| NM_001382787.1:c.3583C>T | NP_001369716.1:p.Pro1195Ser | |
| NM_001382788.1:c.3538C>T | NP_001369717.1:p.Pro1180Ser | |
| NM_001382789.1:c.3529C>T | NP_001369718.1:p.Pro1177Ser | |
| NM_001382790.1:c.3505C>T | NP_001369719.1:p.Pro1169Ser | |
| NM_001382791.1:c.3499C>T | NP_001369720.1:p.Pro1167Ser | |
| NM_001382792.1:c.3472C>T | NP_001369721.1:p.Pro1158Ser | |
| NM_001382793.1:c.3466C>T | NP_001369722.1:p.Pro1156Ser | |
| NM_001382794.1:c.3466C>T | NP_001369723.1:p.Pro1156Ser | |
| NM_001382795.1:c.3460C>T | NP_001369724.1:p.Pro1154Ser | |
| NM_001382796.1:c.3421C>T | NP_001369725.1:p.Pro1141Ser | |
| NM_001382797.1:c.3409C>T | NP_001369726.1:p.Pro1137Ser | |
| NM_001382798.1:c.3352C>T | NP_001369727.1:p.Pro1118Ser | |
| NM_001382799.1:c.3328C>T | NP_001369728.1:p.Pro1110Ser | |
| NM_001382800.1:c.3322C>T | NP_001369729.1:p.Pro1108Ser | |
| NM_001382801.1:c.3304C>T | NP_001369730.1:p.Pro1102Ser | |
| NM_001382802.1:c.3250C>T | NP_001369731.1:p.Pro1084Ser | |
| NM_001382803.1:c.*87C>T | NP_001369732.1:n.*87C>T | |
| NM_001382804.1:c.2680C>T | NP_001369733.1:p.Pro894Ser | |
| NM_001382805.1:c.2557C>T | NP_001369734.1:p.Pro853Ser | |
| NM_001382806.1:c.2470C>T | NP_001369735.1:p.Pro824Ser | |
| NM_004448.4:c.3508C>T MANE Select | NP_004439.2:p.Pro1170Ser | |
| NR_110535.2:n.3746C>T |