Revel Score:
ENST00000406381
0.252
ENST00000541774
0.252
ENST00000445658
0.252
ENST00000269571 (MANE Select)
0.252
ENST00000540147
0.252
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000386 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727784C>A , CM000679.2:g.39727784C>A | GRCh38 |
| NC_000017.10:g.37884037C>A , CM000679.1:g.37884037C>A | GRCh37 |
| NC_000017.9:g.35137563C>A | NCBI36 |
| NG_007503.1:g.44645C>A , LRG_724:g.44645C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3508C>A MANE Select | ENSP00000269571.4:p.Pro1170Thr | |
| ENST00000269571.9:c.3508C>A | ENSP00000269571.4:p.Pro1170Thr | |
| ENST00000406381.6:c.3418C>A | ENSP00000385185.2:p.Pro1140Thr | |
| ENST00000445658.6:c.2680C>A | ENSP00000404047.2:p.Pro894Thr | |
| ENST00000541774.5:c.3463C>A | ENSP00000446466.1:p.Pro1155Thr | |
| ENST00000578373.5:c.*3298C>A | ENSP00000463427.1:n.*3298C>A | |
| ENST00000584450.5:c.*87C>A | ENSP00000463714.1:n.*87C>A | |
| ENST00000584601.5:c.3418C>A | ENSP00000462438.1:p.Pro1140Thr | |
| NM_001005862.2:c.3418C>A , LRG_724t1:c.3418C>A | NP_001005862.1:p.Pro1140Thr | |
| NM_001289936.1:c.3463C>A , LRG_724t4:c.3463C>A | NP_001276865.1:p.Pro1155Thr | |
| NM_001289937.1:c.*87C>A | NP_001276866.1:n.*87C>A | |
| NM_004448.3:c.3508C>A , LRG_724t2:c.3508C>A | NP_004439.2:p.Pro1170Thr | |
| NR_110535.1:n.3832C>A | ||
| XM_024450641.1:c.3646C>A | XP_024306409.1:p.Pro1216Thr | |
| XM_024450642.1:c.3601C>A | XP_024306410.1:p.Pro1201Thr | |
| XM_024450643.1:c.3556C>A | XP_024306411.1:p.Pro1186Thr | |
| NM_001005862.3:c.3418C>A | NP_001005862.1:p.Pro1140Thr | |
| NM_001289936.2:c.3463C>A | NP_001276865.1:p.Pro1155Thr | |
| NM_001289937.2:c.*87C>A | NP_001276866.1:n.*87C>A | |
| NM_001382782.1:c.3418C>A | NP_001369711.1:p.Pro1140Thr | |
| NM_001382783.1:c.3418C>A | NP_001369712.1:p.Pro1140Thr | |
| NM_001382784.1:c.3625C>A | NP_001369713.1:p.Pro1209Thr | |
| NM_001382785.1:c.3610C>A | NP_001369714.1:p.Pro1204Thr | |
| NM_001382786.1:c.3589C>A | NP_001369715.1:p.Pro1197Thr | |
| NM_001382787.1:c.3583C>A | NP_001369716.1:p.Pro1195Thr | |
| NM_001382788.1:c.3538C>A | NP_001369717.1:p.Pro1180Thr | |
| NM_001382789.1:c.3529C>A | NP_001369718.1:p.Pro1177Thr | |
| NM_001382790.1:c.3505C>A | NP_001369719.1:p.Pro1169Thr | |
| NM_001382791.1:c.3499C>A | NP_001369720.1:p.Pro1167Thr | |
| NM_001382792.1:c.3472C>A | NP_001369721.1:p.Pro1158Thr | |
| NM_001382793.1:c.3466C>A | NP_001369722.1:p.Pro1156Thr | |
| NM_001382794.1:c.3466C>A | NP_001369723.1:p.Pro1156Thr | |
| NM_001382795.1:c.3460C>A | NP_001369724.1:p.Pro1154Thr | |
| NM_001382796.1:c.3421C>A | NP_001369725.1:p.Pro1141Thr | |
| NM_001382797.1:c.3409C>A | NP_001369726.1:p.Pro1137Thr | |
| NM_001382798.1:c.3352C>A | NP_001369727.1:p.Pro1118Thr | |
| NM_001382799.1:c.3328C>A | NP_001369728.1:p.Pro1110Thr | |
| NM_001382800.1:c.3322C>A | NP_001369729.1:p.Pro1108Thr | |
| NM_001382801.1:c.3304C>A | NP_001369730.1:p.Pro1102Thr | |
| NM_001382802.1:c.3250C>A | NP_001369731.1:p.Pro1084Thr | |
| NM_001382803.1:c.*87C>A | NP_001369732.1:n.*87C>A | |
| NM_001382804.1:c.2680C>A | NP_001369733.1:p.Pro894Thr | |
| NM_001382805.1:c.2557C>A | NP_001369734.1:p.Pro853Thr | |
| NM_001382806.1:c.2470C>A | NP_001369735.1:p.Pro824Thr | |
| NM_004448.4:c.3508C>A MANE Select | NP_004439.2:p.Pro1170Thr | |
| NR_110535.2:n.3746C>A |