Revel Score:
ENST00000260766
0.273
ENST00000371380 (MANE Select)
0.273
ENST00000371385
0.273
ENST00000371375
0.273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298556G>T , CM000672.2:g.94298556G>T | GRCh38 |
| NC_000010.10:g.96058313G>T , CM000672.1:g.96058313G>T | GRCh37 |
| NC_000010.9:g.96048303G>T | NCBI36 |
| NG_015799.1:g.309568G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.4421G>T | ENSP00000360426.1:p.Cys1474Phe | |
| ENST00000685253.1:c.*1888G>T | ENSP00000509405.1:n.*1888G>T | |
| ENST00000685889.1:n.2080G>T | ||
| ENST00000686807.1:n.764G>T | ||
| ENST00000686954.1:c.*629G>T | ENSP00000508416.1:n.*629G>T | |
| ENST00000688810.1:c.4373G>T | ENSP00000509140.1:p.Cys1458Phe | |
| ENST00000689233.1:n.9553G>T | ||
| ENST00000690340.1:n.3018G>T | ||
| ENST00000692286.1:c.5213G>T | ENSP00000509490.1:p.Cys1738Phe | |
| ENST00000692396.1:c.5297G>T | ENSP00000508605.1:p.Cys1766Phe | |
| ENST00000371380.8:c.5345G>T MANE Select | ENSP00000360431.2:p.Cys1782Phe | |
| ENST00000371385.8:c.4319G>T | ENSP00000360438.4:p.Cys1440Phe | |
| ENST00000674738.1:c.3900G>T | ||
| ENST00000674827.1:c.3461G>T | ENSP00000502523.1:p.Cys1154Phe | |
| ENST00000675218.1:c.4421G>T | ENSP00000501910.1:p.Cys1474Phe | |
| ENST00000675487.1:c.*1278G>T | ENSP00000502340.1:n.*1278G>T | |
| ENST00000675718.1:c.4614G>T | ||
| ENST00000260766.7:c.5345G>T | ENSP00000260766.3:p.Cys1782Phe | |
| ENST00000371375.1:c.4421G>T | ENSP00000360426.1:p.Cys1474Phe | |
| ENST00000371380.7:c.5345G>T | ENSP00000360431.2:p.Cys1782Phe | |
| ENST00000371385.7:c.4421G>T | ENSP00000360438.3:p.Cys1474Phe | |
| NM_001165979.2:c.4421G>T | NP_001159451.1:p.Cys1474Phe | |
| NM_001288989.1:c.5297G>T | NP_001275918.1:p.Cys1766Phe | |
| NM_016341.3:c.5345G>T | NP_057425.3:p.Cys1782Phe | |
| XM_006717885.2:c.5387G>T | XP_006717948.1:p.Cys1796Phe | |
| XM_006717886.2:c.5387G>T | XP_006717949.1:p.Cys1796Phe | |
| XM_006717888.2:c.5384G>T | XP_006717951.1:p.Cys1795Phe | |
| XM_006717889.2:c.5339G>T | XP_006717952.1:p.Cys1780Phe | |
| XM_006717890.1:c.4463G>T | XP_006717953.1:p.Cys1488Phe | |
| XM_011539849.1:c.5387G>T | XP_011538151.1:p.Cys1796Phe | |
| XM_011539850.1:c.4232G>T | XP_011538152.1:p.Cys1411Phe | |
| XM_006717885.4:c.5387G>T | XP_006717948.1:p.Cys1796Phe | |
| XM_006717888.4:c.5384G>T | XP_006717951.1:p.Cys1795Phe | |
| XM_006717889.4:c.5339G>T | XP_006717952.1:p.Cys1780Phe | |
| XM_006717890.3:c.4463G>T | XP_006717953.1:p.Cys1488Phe | |
| XM_011539849.3:c.5387G>T | XP_011538151.1:p.Cys1796Phe | |
| XM_011539850.3:c.4232G>T | XP_011538152.1:p.Cys1411Phe | |
| XM_017016310.2:c.5387G>T | XP_016871799.1:p.Cys1796Phe | |
| XM_017016311.2:c.5387G>T | XP_016871800.1:p.Cys1796Phe | |
| XM_017016312.2:c.4373G>T | XP_016871801.1:p.Cys1458Phe | |
| NM_001288989.2:c.5297G>T | NP_001275918.1:p.Cys1766Phe | |
| NM_016341.4:c.5345G>T MANE Select | NP_057425.3:p.Cys1782Phe |