Revel Score:
ENST00000271588 (MANE Select)
0.973
ENST00000367492
0.973
ENST00000414277
0.973
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186172051G>T , CM000663.2:g.186172051G>T | GRCh38 |
| NC_000001.10:g.186141183G>T , CM000663.1:g.186141183G>T | GRCh37 |
| NC_000001.9:g.184407806G>T | NCBI36 |
| NG_011841.1:g.442501G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15734G>T MANE Select | ENSP00000271588.4:p.Cys5245Phe | |
| ENST00000271588.8:c.15734G>T | ENSP00000271588.4:p.Cys5245Phe | |
| ENST00000414277.1:c.110G>T | ENSP00000406205.1:p.Cys37Phe | |
| ENST00000475585.1:n.322G>T | ||
| NM_031935.2:c.15734G>T | NP_114141.2:p.Cys5245Phe | |
| XM_011510037.1:c.15449G>T | XP_011508339.1:p.Cys5150Phe | |
| XM_011510038.1:c.15734G>T | XP_011508340.1:p.Cys5245Phe | |
| XM_011510038.3:c.15734G>T | XP_011508340.1:p.Cys5245Phe | |
| XM_017002437.1:c.13757G>T | XP_016857926.1:p.Cys4586Phe | |
| NM_031935.3:c.15734G>T MANE Select | NP_114141.2:p.Cys5245Phe |