Revel Score:
ENST00000428362
0.906
ENST00000380993 (MANE Select)
0.906
ENST00000396577
0.906
gnomAD v4:
Joint Max Group AF
0.00013403 (MID)
Exomes Max Group AF
0.00014138 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48251703G>T , CM000677.2:g.48251703G>T | GRCh38 |
| NC_000015.9:g.48543900G>T , CM000677.1:g.48543900G>T | GRCh37 |
| NC_000015.8:g.46331192G>T | NCBI36 |
| NG_021301.1:g.50403G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686073.1:c.1875G>T | ENSP00000508901.1:p.Trp625Cys | |
| ENST00000380993.8:c.1875G>T MANE Select | ENSP00000370381.3:p.Trp625Cys | |
| ENST00000646012.1:c.2013G>T | ENSP00000495813.1:p.Trp671Cys | |
| ENST00000647232.1:c.1875G>T | ENSP00000493875.1:p.Trp625Cys | |
| ENST00000647546.1:c.1875G>T | ENSP00000495332.1:p.Trp625Cys | |
| ENST00000380993.7:c.1875G>T | ENSP00000370381.3:p.Trp625Cys | |
| ENST00000396577.7:c.1875G>T | ENSP00000379822.3:p.Trp625Cys | |
| ENST00000558252.5:n.5998G>T | ||
| ENST00000558405.5:c.1875G>T | ENSP00000453409.1:p.Trp625Cys | |
| ENST00000559641.5:c.1314G>T | ENSP00000453230.1:p.Trp438Cys | |
| ENST00000560692.5:n.6014G>T | ||
| NM_000338.2:c.1875G>T | NP_000329.2:p.Trp625Cys | |
| NM_001184832.1:c.1875G>T | NP_001171761.1:p.Trp625Cys | |
| XM_005254605.1:c.1971G>T | XP_005254662.1:p.Trp657Cys | |
| XM_005254606.1:c.1875G>T | XP_005254663.1:p.Trp625Cys | |
| XM_006720656.1:c.1971G>T | XP_006720719.1:p.Trp657Cys | |
| XR_931896.1:n.2187G>T | ||
| XM_005254606.2:c.1875G>T | XP_005254663.1:p.Trp625Cys | |
| NM_000338.3:c.1875G>T MANE Select | NP_000329.2:p.Trp625Cys | |
| NM_001184832.2:c.1875G>T | NP_001171761.1:p.Trp625Cys | |
| NM_001384136.1:c.1875G>T | NP_001371065.1:p.Trp625Cys |