Revel Score:
ENST00000426016
0.372
ENST00000402219 (MANE Select)
0.372
ENST00000543698
0.372
ENST00000395038
0.372
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38986045G>A , CM000664.2:g.38986045G>A | GRCh38 |
| NC_000002.11:g.39213186G>A , CM000664.1:g.39213186G>A | GRCh37 |
| NC_000002.10:g.39066690G>A | NCBI36 |
| NG_007530.1:g.139419C>T , LRG_754:g.139419C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.2548C>T | ENSP00000509424.1:p.Pro850Ser | |
| ENST00000686849.1:n.572C>T | ||
| ENST00000690876.1:c.*1087C>T | ENSP00000508955.1:n.*1087C>T | |
| ENST00000692089.1:c.3399+1428C>T | ENSP00000508626.1:n.3399+1428C>T | |
| ENST00000692227.1:c.1162-682C>T | ENSP00000509138.1:n.1162-682C>T | |
| ENST00000402219.8:c.3781C>T MANE Select | ENSP00000384675.2:p.Pro1261Ser | |
| ENST00000395038.6:c.3736C>T | ENSP00000378479.2:p.Pro1246Ser | |
| ENST00000402219.6:c.3781C>T | ENSP00000384675.2:p.Pro1261Ser | |
| ENST00000426016.5:c.3781C>T | ENSP00000387784.1:p.Pro1261Ser | |
| NM_005633.3:c.3781C>T , LRG_754t1:c.3781C>T | NP_005624.2:p.Pro1261Ser | |
| XM_005264515.3:c.3736C>T | XP_005264572.1:p.Pro1246Ser | |
| XM_011533060.1:c.3874C>T | XP_011531362.1:p.Pro1292Ser | |
| XM_011533061.1:c.3829C>T | XP_011531363.1:p.Pro1277Ser | |
| XM_011533062.1:c.3760C>T | XP_011531364.1:p.Pro1254Ser | |
| XM_011533063.1:c.3757C>T | XP_011531365.1:p.Pro1253Ser | |
| XM_011533064.1:c.3610C>T | XP_011531366.1:p.Pro1204Ser | |
| XM_011533065.1:c.3604-682C>T | XP_011531367.1:n.3604-682C>T | |
| XM_011533066.1:c.2716C>T | XP_011531368.1:p.Pro906Ser | |
| XM_005264515.4:c.3736C>T | XP_005264572.1:p.Pro1246Ser | |
| XM_011533062.2:c.3760C>T | XP_011531364.1:p.Pro1254Ser | |
| XM_011533064.2:c.3610C>T | XP_011531366.1:p.Pro1204Ser | |
| NM_001382394.1:c.3760C>T | NP_001369323.1:p.Pro1254Ser | |
| NM_001382395.1:c.3736C>T | NP_001369324.1:p.Pro1246Ser | |
| NM_005633.4:c.3781C>T MANE Select | NP_005624.2:p.Pro1261Ser |