Revel Score:
ENST00000260766
0.242
ENST00000371380 (MANE Select)
0.242
ENST00000371385
0.242
ENST00000371375
0.242
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298540A>C , CM000672.2:g.94298540A>C | GRCh38 |
| NC_000010.10:g.96058297A>C , CM000672.1:g.96058297A>C | GRCh37 |
| NC_000010.9:g.96048287A>C | NCBI36 |
| NG_015799.1:g.309552A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.4405A>C | ENSP00000360426.1:p.Thr1469Pro | |
| ENST00000685253.1:c.*1872A>C | ENSP00000509405.1:n.*1872A>C | |
| ENST00000685889.1:n.2064A>C | ||
| ENST00000686807.1:n.748A>C | ||
| ENST00000686954.1:c.*613A>C | ENSP00000508416.1:n.*613A>C | |
| ENST00000688810.1:c.4357A>C | ENSP00000509140.1:p.Thr1453Pro | |
| ENST00000689233.1:n.9537A>C | ||
| ENST00000690340.1:n.3002A>C | ||
| ENST00000692286.1:c.5197A>C | ENSP00000509490.1:p.Thr1733Pro | |
| ENST00000692396.1:c.5281A>C | ENSP00000508605.1:p.Thr1761Pro | |
| ENST00000371380.8:c.5329A>C MANE Select | ENSP00000360431.2:p.Thr1777Pro | |
| ENST00000371385.8:c.4303A>C | ENSP00000360438.4:p.Thr1435Pro | |
| ENST00000674738.1:c.3884A>C | ||
| ENST00000674827.1:c.3445A>C | ENSP00000502523.1:p.Thr1149Pro | |
| ENST00000675218.1:c.4405A>C | ENSP00000501910.1:p.Thr1469Pro | |
| ENST00000675487.1:c.*1262A>C | ENSP00000502340.1:n.*1262A>C | |
| ENST00000675718.1:c.4598A>C | ||
| ENST00000260766.7:c.5329A>C | ENSP00000260766.3:p.Thr1777Pro | |
| ENST00000371375.1:c.4405A>C | ENSP00000360426.1:p.Thr1469Pro | |
| ENST00000371380.7:c.5329A>C | ENSP00000360431.2:p.Thr1777Pro | |
| ENST00000371385.7:c.4405A>C | ENSP00000360438.3:p.Thr1469Pro | |
| NM_001165979.2:c.4405A>C | NP_001159451.1:p.Thr1469Pro | |
| NM_001288989.1:c.5281A>C | NP_001275918.1:p.Thr1761Pro | |
| NM_016341.3:c.5329A>C | NP_057425.3:p.Thr1777Pro | |
| XM_006717885.2:c.5371A>C | XP_006717948.1:p.Thr1791Pro | |
| XM_006717886.2:c.5371A>C | XP_006717949.1:p.Thr1791Pro | |
| XM_006717888.2:c.5368A>C | XP_006717951.1:p.Thr1790Pro | |
| XM_006717889.2:c.5323A>C | XP_006717952.1:p.Thr1775Pro | |
| XM_006717890.1:c.4447A>C | XP_006717953.1:p.Thr1483Pro | |
| XM_011539849.1:c.5371A>C | XP_011538151.1:p.Thr1791Pro | |
| XM_011539850.1:c.4216A>C | XP_011538152.1:p.Thr1406Pro | |
| XM_006717885.4:c.5371A>C | XP_006717948.1:p.Thr1791Pro | |
| XM_006717888.4:c.5368A>C | XP_006717951.1:p.Thr1790Pro | |
| XM_006717889.4:c.5323A>C | XP_006717952.1:p.Thr1775Pro | |
| XM_006717890.3:c.4447A>C | XP_006717953.1:p.Thr1483Pro | |
| XM_011539849.3:c.5371A>C | XP_011538151.1:p.Thr1791Pro | |
| XM_011539850.3:c.4216A>C | XP_011538152.1:p.Thr1406Pro | |
| XM_017016310.2:c.5371A>C | XP_016871799.1:p.Thr1791Pro | |
| XM_017016311.2:c.5371A>C | XP_016871800.1:p.Thr1791Pro | |
| XM_017016312.2:c.4357A>C | XP_016871801.1:p.Thr1453Pro | |
| NM_001288989.2:c.5281A>C | NP_001275918.1:p.Thr1761Pro | |
| NM_016341.4:c.5329A>C MANE Select | NP_057425.3:p.Thr1777Pro |