Revel Score:
ENST00000271588 (MANE Select)
0.936
ENST00000367492
0.936
ENST00000414277
0.936
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186174527T>G , CM000663.2:g.186174527T>G | GRCh38 |
| NC_000001.10:g.186143659T>G , CM000663.1:g.186143659T>G | GRCh37 |
| NC_000001.9:g.184410282T>G | NCBI36 |
| NG_011841.1:g.444977T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15828T>G MANE Select | ENSP00000271588.4:p.Cys5276Trp | |
| ENST00000271588.8:c.15828T>G | ENSP00000271588.4:p.Cys5276Trp | |
| ENST00000414277.1:c.204T>G | ENSP00000406205.1:p.Cys68Trp | |
| NM_031935.2:c.15828T>G | NP_114141.2:p.Cys5276Trp | |
| XM_011510037.1:c.15543T>G | XP_011508339.1:p.Cys5181Trp | |
| XM_011510038.1:c.15828T>G | XP_011508340.1:p.Cys5276Trp | |
| XM_011510038.3:c.15828T>G | XP_011508340.1:p.Cys5276Trp | |
| XM_017002437.1:c.13851T>G | XP_016857926.1:p.Cys4617Trp | |
| NM_031935.3:c.15828T>G MANE Select | NP_114141.2:p.Cys5276Trp |