Revel Score:
ENST00000260766
0.704
ENST00000371380 (MANE Select)
0.704
ENST00000371385
0.704
ENST00000371375
0.704
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298504G>T , CM000672.2:g.94298504G>T | GRCh38 |
| NC_000010.10:g.96058261G>T , CM000672.1:g.96058261G>T | GRCh37 |
| NC_000010.9:g.96048251G>T | NCBI36 |
| NG_015799.1:g.309516G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.4369G>T | ENSP00000360426.1:p.Ala1457Ser | |
| ENST00000685253.1:c.*1836G>T | ENSP00000509405.1:n.*1836G>T | |
| ENST00000685889.1:n.2028G>T | ||
| ENST00000686807.1:n.712G>T | ||
| ENST00000686954.1:c.*577G>T | ENSP00000508416.1:n.*577G>T | |
| ENST00000688810.1:c.4321G>T | ENSP00000509140.1:p.Ala1441Ser | |
| ENST00000689233.1:n.9501G>T | ||
| ENST00000690340.1:n.2966G>T | ||
| ENST00000692286.1:c.5161G>T | ENSP00000509490.1:p.Ala1721Ser | |
| ENST00000692396.1:c.5245G>T | ENSP00000508605.1:p.Ala1749Ser | |
| ENST00000371380.8:c.5293G>T MANE Select | ENSP00000360431.2:p.Ala1765Ser | |
| ENST00000371385.8:c.4267G>T | ENSP00000360438.4:p.Ala1423Ser | |
| ENST00000674738.1:c.3848G>T | ||
| ENST00000674827.1:c.3409G>T | ENSP00000502523.1:p.Ala1137Ser | |
| ENST00000675218.1:c.4369G>T | ENSP00000501910.1:p.Ala1457Ser | |
| ENST00000675487.1:c.*1226G>T | ENSP00000502340.1:n.*1226G>T | |
| ENST00000675718.1:c.4562G>T | ||
| ENST00000260766.7:c.5293G>T | ENSP00000260766.3:p.Ala1765Ser | |
| ENST00000371375.1:c.4369G>T | ENSP00000360426.1:p.Ala1457Ser | |
| ENST00000371380.7:c.5293G>T | ENSP00000360431.2:p.Ala1765Ser | |
| ENST00000371385.7:c.4369G>T | ENSP00000360438.3:p.Ala1457Ser | |
| NM_001165979.2:c.4369G>T | NP_001159451.1:p.Ala1457Ser | |
| NM_001288989.1:c.5245G>T | NP_001275918.1:p.Ala1749Ser | |
| NM_016341.3:c.5293G>T | NP_057425.3:p.Ala1765Ser | |
| XM_006717885.2:c.5335G>T | XP_006717948.1:p.Ala1779Ser | |
| XM_006717886.2:c.5335G>T | XP_006717949.1:p.Ala1779Ser | |
| XM_006717888.2:c.5332G>T | XP_006717951.1:p.Ala1778Ser | |
| XM_006717889.2:c.5287G>T | XP_006717952.1:p.Ala1763Ser | |
| XM_006717890.1:c.4411G>T | XP_006717953.1:p.Ala1471Ser | |
| XM_011539849.1:c.5335G>T | XP_011538151.1:p.Ala1779Ser | |
| XM_011539850.1:c.4180G>T | XP_011538152.1:p.Ala1394Ser | |
| XM_006717885.4:c.5335G>T | XP_006717948.1:p.Ala1779Ser | |
| XM_006717888.4:c.5332G>T | XP_006717951.1:p.Ala1778Ser | |
| XM_006717889.4:c.5287G>T | XP_006717952.1:p.Ala1763Ser | |
| XM_006717890.3:c.4411G>T | XP_006717953.1:p.Ala1471Ser | |
| XM_011539849.3:c.5335G>T | XP_011538151.1:p.Ala1779Ser | |
| XM_011539850.3:c.4180G>T | XP_011538152.1:p.Ala1394Ser | |
| XM_017016310.2:c.5335G>T | XP_016871799.1:p.Ala1779Ser | |
| XM_017016311.2:c.5335G>T | XP_016871800.1:p.Ala1779Ser | |
| XM_017016312.2:c.4321G>T | XP_016871801.1:p.Ala1441Ser | |
| NM_001288989.2:c.5245G>T | NP_001275918.1:p.Ala1749Ser | |
| NM_016341.4:c.5293G>T MANE Select | NP_057425.3:p.Ala1765Ser |