Revel Score:
ENST00000366574 (MANE Select)
0.949
ENST00000360064
0.949
ENST00000542537
0.949
ENST00000536033
0.949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237828390T>C , CM000663.2:g.237828390T>C | GRCh38 |
| NC_000001.10:g.237991690T>C , CM000663.1:g.237991690T>C | GRCh37 |
| NC_000001.9:g.236058313T>C | NCBI36 |
| NG_008799.2:g.790989T>C | |
| NG_008799.3:g.791207T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*5692T>C | ENSP00000499659.2:n.*5692T>C | |
| ENST00000659194.3:c.14582T>C | ENSP00000499653.3:p.Ile4861Thr | |
| ENST00000660292.2:c.14621T>C | ENSP00000499787.2:p.Ile4874Thr | |
| ENST00000659194.2:c.6771T>C | ||
| ENST00000366574.7:c.14600T>C MANE Select | ENSP00000355533.2:p.Ile4867Thr | |
| ENST00000360064.7:c.14549T>C | ENSP00000353174.7:p.Ile4850Thr | |
| ENST00000366574.6:c.14600T>C | ENSP00000355533.2:p.Ile4867Thr | |
| ENST00000608590.5:n.1111T>C | ||
| NM_001035.2:c.14600T>C | NP_001026.2:p.Ile4867Thr | |
| XM_006711802.2:c.14654T>C | XP_006711865.1:p.Ile4885Thr | |
| XM_006711803.2:c.14651T>C | XP_006711866.1:p.Ile4884Thr | |
| XM_006711804.2:c.14630T>C | XP_006711867.1:p.Ile4877Thr | |
| XM_006711805.2:c.14624T>C | XP_006711868.1:p.Ile4875Thr | |
| XM_006711806.2:c.14618T>C | XP_006711869.1:p.Ile4873Thr | |
| XM_006711807.2:c.14594T>C | XP_006711870.1:p.Ile4865Thr | |
| XM_006711808.2:c.14417T>C | XP_006711871.1:p.Ile4806Thr | |
| XM_006711810.2:c.14561T>C | XP_006711873.1:p.Ile4854Thr | |
| XM_006711802.3:c.14654T>C | XP_006711865.1:p.Ile4885Thr | |
| XM_006711803.3:c.14651T>C | XP_006711866.1:p.Ile4884Thr | |
| XM_006711804.3:c.14630T>C | XP_006711867.1:p.Ile4877Thr | |
| XM_006711805.3:c.14624T>C | XP_006711868.1:p.Ile4875Thr | |
| XM_006711806.3:c.14618T>C | XP_006711869.1:p.Ile4873Thr | |
| XM_006711807.3:c.14594T>C | XP_006711870.1:p.Ile4865Thr | |
| XM_006711808.3:c.14417T>C | XP_006711871.1:p.Ile4806Thr | |
| XM_006711810.3:c.14561T>C | XP_006711873.1:p.Ile4854Thr | |
| XM_017002028.1:c.14633T>C | XP_016857517.1:p.Ile4878Thr | |
| NM_001035.3:c.14600T>C MANE Select | NP_001026.2:p.Ile4867Thr |