Revel Score:
ENST00000417037
0.115
ENST00000396334
0.115
ENST00000424893
0.115
ENST00000421516
0.115
ENST00000415158
0.115
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38140481A>T , CM000665.2:g.38140481A>T | GRCh38 |
| NC_000003.11:g.38181972A>T , CM000665.1:g.38181972A>T | GRCh37 |
| NC_000003.10:g.38156976A>T | NCBI36 |
| NG_016964.1:g.7004A>T , LRG_157:g.7004A>T | |
| NG_023225.1:g.1762T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463956.2:n.344A>T | ||
| ENST00000484513.2:n.1847A>T | ||
| ENST00000699084.1:n.1458A>T | ||
| ENST00000699085.1:n.1422A>T | ||
| ENST00000699086.1:c.357A>T | ||
| ENST00000396334.8:c.557A>T | ENSP00000379625.4:p.Asn186Ile | |
| ENST00000416282.3:n.472A>T | ||
| ENST00000417037.8:c.422A>T | ENSP00000401399.4:p.Asn141Ile | |
| ENST00000421516.3:c.557A>T | ENSP00000391753.3:p.Asn186Ile | |
| ENST00000650112.2:c.329-276A>T | ENSP00000497991.2:n.329-276A>T | |
| ENST00000650905.2:c.557A>T MANE Select | ENSP00000498360.2:p.Asn186Ile | |
| ENST00000651800.2:c.464-276A>T | ENSP00000499012.2:n.464-276A>T | |
| ENST00000652213.1:c.557A>T | ENSP00000498576.1:p.Asn186Ile | |
| ENST00000652590.1:n.597A>T | ||
| ENST00000396334.7:c.596A>T | ENSP00000379625.3:p.Asn199Ile | |
| ENST00000416282.2:n.472A>T | ||
| ENST00000417037.6:c.596A>T | ENSP00000401399.2:p.Asn199Ile | |
| ENST00000421516.1:c.593A>T | ENSP00000391753.1:p.Asn198Ile | |
| ENST00000424893.5:c.461A>T | ENSP00000389979.1:p.Asn154Ile | |
| ENST00000443433.6:c.503-276A>T | ENSP00000390565.2:n.503-276A>T | |
| ENST00000460295.1:n.990A>T | ||
| ENST00000463956.1:n.270A>T | ||
| ENST00000481122.5:n.350A>T | ||
| ENST00000484513.1:n.1059A>T | ||
| ENST00000495303.5:c.368-276A>T | ENSP00000417848.1:n.368-276A>T | |
| NM_001172566.1:c.368-276A>T | NP_001166037.1:n.368-276A>T | |
| NM_001172567.1:c.596A>T , LRG_157t1:c.596A>T | NP_001166038.1:p.Asn199Ile | |
| NM_001172568.1:c.461A>T | NP_001166039.1:p.Asn154Ile | |
| NM_001172569.1:c.503-276A>T | NP_001166040.1:n.503-276A>T | |
| NM_002468.4:c.596A>T | NP_002459.2:p.Asn199Ile | |
| XM_005265172.1:c.596A>T | XP_005265229.1:p.Asn199Ile | |
| XM_006713170.1:c.461A>T | XP_006713233.1:p.Asn154Ile | |
| NM_001172566.2:c.329-276A>T | NP_001166037.2:n.329-276A>T | |
| NM_001172567.2:c.557A>T | NP_001166038.2:p.Asn186Ile | |
| NM_001172568.2:c.422A>T | NP_001166039.2:p.Asn141Ile | |
| NM_001172569.2:c.464-276A>T | NP_001166040.2:n.464-276A>T | |
| NM_001365876.1:c.557A>T | NP_001352805.1:p.Asn186Ile | |
| NM_001365877.1:c.422A>T | NP_001352806.1:p.Asn141Ile | |
| NM_002468.5:c.557A>T MANE Select | NP_002459.3:p.Asn186Ile | |
| NM_001172569.3:c.464-276A>T | NP_001166040.2:n.464-276A>T | |
| NM_001374787.1:c.557A>T | NP_001361716.1:p.Asn186Ile | |
| NM_001374788.1:c.89A>T | NP_001361717.1:p.Asn30Ile | |
| NR_164663.1:n.259A>T |