Revel Score:
ENST00000378486 (MANE Select)
0.029
ENST00000378488
0.029
ENST00000278878
0.029
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2504041T>C , CM000663.2:g.2504041T>C | GRCh38 |
| NC_000001.10:g.2435480T>C , CM000663.1:g.2435480T>C | GRCh37 |
| NC_000001.9:g.2425340T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378486.8:c.3079T>C MANE Select | ENSP00000367747.3:p.Ser1027Pro | |
| ENST00000278878.6:c.2546T>C | ||
| ENST00000343889.8:n.4964T>C | ||
| ENST00000378486.7:c.3079T>C | ENSP00000367747.3:p.Ser1027Pro | |
| ENST00000419816.6:c.3079T>C | ENSP00000389803.2:p.Ser1027Pro | |
| ENST00000449969.5:c.*414T>C | ENSP00000397289.1:n.*414T>C | |
| ENST00000462379.1:n.854T>C | ||
| ENST00000473964.5:n.5499T>C | ||
| NM_001303012.1:c.*414T>C | NP_001289941.1:n.*414T>C | |
| NM_001303013.1:c.*56T>C | NP_001289942.1:n.*56T>C | |
| NM_014638.3:c.3079T>C | NP_055453.2:p.Ser1027Pro | |
| XM_011542449.1:c.3820T>C | XP_011540751.1:p.Ser1274Pro | |
| XM_011542450.1:c.3712T>C | XP_011540752.1:p.Ser1238Pro | |
| XM_011542451.1:c.3580T>C | XP_011540753.1:p.Ser1194Pro | |
| XM_011542452.1:c.3487T>C | XP_011540754.1:p.Ser1163Pro | |
| XM_011542453.1:c.3445T>C | XP_011540755.1:p.Ser1149Pro | |
| XM_011542454.1:c.3319T>C | XP_011540756.1:p.Ser1107Pro | |
| XM_011542455.1:c.3571T>C | XP_011540757.1:p.Ser1191Pro | |
| XM_011542456.1:c.3571T>C | XP_011540758.1:p.Ser1191Pro | |
| XM_011542457.1:c.3211T>C | XP_011540759.1:p.Ser1071Pro | |
| XM_011542458.1:c.3499T>C | XP_011540760.1:p.Ser1167Pro | |
| XM_011542460.1:c.*56T>C | XP_011540762.1:n.*56T>C | |
| XM_017002870.1:c.3865T>C | XP_016858359.1:p.Ser1289Pro | |
| XM_017002872.1:c.3364T>C | XP_016858361.1:p.Ser1122Pro | |
| XM_017002873.1:c.3256T>C | XP_016858362.1:p.Ser1086Pro | |
| XM_017002874.1:c.*56T>C | XP_016858363.1:n.*56T>C | |
| XM_024451058.1:c.4096T>C | XP_024306826.1:p.Ser1366Pro | |
| XM_024451059.1:c.3619T>C | XP_024306827.1:p.Ser1207Pro | |
| XM_024451060.1:c.3826T>C | XP_024306828.1:p.Ser1276Pro | |
| XM_024451061.1:c.3826T>C | XP_024306829.1:p.Ser1276Pro | |
| XM_024451062.1:c.*414T>C | XP_024306830.1:n.*414T>C | |
| XM_024451063.1:c.*56T>C | XP_024306831.1:n.*56T>C | |
| XM_024451064.1:c.*414T>C | XP_024306832.1:n.*414T>C | |
| NM_014638.4:c.3079T>C MANE Select | NP_055453.2:p.Ser1027Pro | |
| NM_001303012.2:c.*414T>C | NP_001289941.1:n.*414T>C |