Revel Score:
ENST00000271588 (MANE Select)
0.943
ENST00000367492
0.943
ENST00000414277
0.943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186174526G>T , CM000663.2:g.186174526G>T | GRCh38 |
| NC_000001.10:g.186143658G>T , CM000663.1:g.186143658G>T | GRCh37 |
| NC_000001.9:g.184410281G>T | NCBI36 |
| NG_011841.1:g.444976G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15827G>T MANE Select | ENSP00000271588.4:p.Cys5276Phe | |
| ENST00000271588.8:c.15827G>T | ENSP00000271588.4:p.Cys5276Phe | |
| ENST00000414277.1:c.203G>T | ENSP00000406205.1:p.Cys68Phe | |
| NM_031935.2:c.15827G>T | NP_114141.2:p.Cys5276Phe | |
| XM_011510037.1:c.15542G>T | XP_011508339.1:p.Cys5181Phe | |
| XM_011510038.1:c.15827G>T | XP_011508340.1:p.Cys5276Phe | |
| XM_011510038.3:c.15827G>T | XP_011508340.1:p.Cys5276Phe | |
| XM_017002437.1:c.13850G>T | XP_016857926.1:p.Cys4617Phe | |
| NM_031935.3:c.15827G>T MANE Select | NP_114141.2:p.Cys5276Phe |