Revel Score:
ENST00000260766
0.113
ENST00000371380 (MANE Select)
0.113
ENST00000371385
0.113
ENST00000371375
0.113
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298543C>A , CM000672.2:g.94298543C>A | GRCh38 |
| NC_000010.10:g.96058300C>A , CM000672.1:g.96058300C>A | GRCh37 |
| NC_000010.9:g.96048290C>A | NCBI36 |
| NG_015799.1:g.309555C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.4408C>A | ENSP00000360426.1:p.Gln1470Lys | |
| ENST00000685253.1:c.*1875C>A | ENSP00000509405.1:n.*1875C>A | |
| ENST00000685889.1:n.2067C>A | ||
| ENST00000686807.1:n.751C>A | ||
| ENST00000686954.1:c.*616C>A | ENSP00000508416.1:n.*616C>A | |
| ENST00000688810.1:c.4360C>A | ENSP00000509140.1:p.Gln1454Lys | |
| ENST00000689233.1:n.9540C>A | ||
| ENST00000690340.1:n.3005C>A | ||
| ENST00000692286.1:c.5200C>A | ENSP00000509490.1:p.Gln1734Lys | |
| ENST00000692396.1:c.5284C>A | ENSP00000508605.1:p.Gln1762Lys | |
| ENST00000371380.8:c.5332C>A MANE Select | ENSP00000360431.2:p.Gln1778Lys | |
| ENST00000371385.8:c.4306C>A | ENSP00000360438.4:p.Gln1436Lys | |
| ENST00000674738.1:c.3887C>A | ||
| ENST00000674827.1:c.3448C>A | ENSP00000502523.1:p.Gln1150Lys | |
| ENST00000675218.1:c.4408C>A | ENSP00000501910.1:p.Gln1470Lys | |
| ENST00000675487.1:c.*1265C>A | ENSP00000502340.1:n.*1265C>A | |
| ENST00000675718.1:c.4601C>A | ||
| ENST00000260766.7:c.5332C>A | ENSP00000260766.3:p.Gln1778Lys | |
| ENST00000371375.1:c.4408C>A | ENSP00000360426.1:p.Gln1470Lys | |
| ENST00000371380.7:c.5332C>A | ENSP00000360431.2:p.Gln1778Lys | |
| ENST00000371385.7:c.4408C>A | ENSP00000360438.3:p.Gln1470Lys | |
| NM_001165979.2:c.4408C>A | NP_001159451.1:p.Gln1470Lys | |
| NM_001288989.1:c.5284C>A | NP_001275918.1:p.Gln1762Lys | |
| NM_016341.3:c.5332C>A | NP_057425.3:p.Gln1778Lys | |
| XM_006717885.2:c.5374C>A | XP_006717948.1:p.Gln1792Lys | |
| XM_006717886.2:c.5374C>A | XP_006717949.1:p.Gln1792Lys | |
| XM_006717888.2:c.5371C>A | XP_006717951.1:p.Gln1791Lys | |
| XM_006717889.2:c.5326C>A | XP_006717952.1:p.Gln1776Lys | |
| XM_006717890.1:c.4450C>A | XP_006717953.1:p.Gln1484Lys | |
| XM_011539849.1:c.5374C>A | XP_011538151.1:p.Gln1792Lys | |
| XM_011539850.1:c.4219C>A | XP_011538152.1:p.Gln1407Lys | |
| XM_006717885.4:c.5374C>A | XP_006717948.1:p.Gln1792Lys | |
| XM_006717888.4:c.5371C>A | XP_006717951.1:p.Gln1791Lys | |
| XM_006717889.4:c.5326C>A | XP_006717952.1:p.Gln1776Lys | |
| XM_006717890.3:c.4450C>A | XP_006717953.1:p.Gln1484Lys | |
| XM_011539849.3:c.5374C>A | XP_011538151.1:p.Gln1792Lys | |
| XM_011539850.3:c.4219C>A | XP_011538152.1:p.Gln1407Lys | |
| XM_017016310.2:c.5374C>A | XP_016871799.1:p.Gln1792Lys | |
| XM_017016311.2:c.5374C>A | XP_016871800.1:p.Gln1792Lys | |
| XM_017016312.2:c.4360C>A | XP_016871801.1:p.Gln1454Lys | |
| NM_001288989.2:c.5284C>A | NP_001275918.1:p.Gln1762Lys | |
| NM_016341.4:c.5332C>A MANE Select | NP_057425.3:p.Gln1778Lys |