Revel Score:
ENST00000426016
0.461
ENST00000402219 (MANE Select)
0.461
ENST00000395038
0.461
ENST00000263879
0.461
ENST00000428721
0.461
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39051242T>A , CM000664.2:g.39051242T>A | GRCh38 |
| NC_000002.11:g.39278383T>A , CM000664.1:g.39278383T>A | GRCh37 |
| NC_000002.10:g.39131887T>A | NCBI36 |
| NG_007530.1:g.74222A>T , LRG_754:g.74222A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.793A>T | ||
| ENST00000472480.2:n.646A>T | ||
| ENST00000685782.1:n.1604A>T | ||
| ENST00000689668.1:n.773A>T | ||
| ENST00000690679.1:c.866A>T | ||
| ENST00000690876.1:c.766A>T | ENSP00000508955.1:p.Ser256Cys | |
| ENST00000691229.1:c.766A>T | ENSP00000510437.1:p.Ser256Cys | |
| ENST00000692089.1:c.766A>T | ENSP00000508626.1:p.Ser256Cys | |
| ENST00000402219.8:c.766A>T MANE Select | ENSP00000384675.2:p.Ser256Cys | |
| ENST00000395038.6:c.766A>T | ENSP00000378479.2:p.Ser256Cys | |
| ENST00000402219.6:c.766A>T | ENSP00000384675.2:p.Ser256Cys | |
| ENST00000426016.5:c.766A>T | ENSP00000387784.1:p.Ser256Cys | |
| ENST00000461545.1:n.116A>T | ||
| NM_005633.3:c.766A>T , LRG_754t1:c.766A>T | NP_005624.2:p.Ser256Cys | |
| XM_005264515.3:c.766A>T | XP_005264572.1:p.Ser256Cys | |
| XM_011533060.1:c.859A>T | XP_011531362.1:p.Ser287Cys | |
| XM_011533061.1:c.859A>T | XP_011531363.1:p.Ser287Cys | |
| XM_011533062.1:c.745A>T | XP_011531364.1:p.Ser249Cys | |
| XM_011533063.1:c.742A>T | XP_011531365.1:p.Ser248Cys | |
| XM_011533064.1:c.595A>T | XP_011531366.1:p.Ser199Cys | |
| XM_011533065.1:c.859A>T | XP_011531367.1:p.Ser287Cys | |
| XM_005264515.4:c.766A>T | XP_005264572.1:p.Ser256Cys | |
| XM_011533062.2:c.745A>T | XP_011531364.1:p.Ser249Cys | |
| XM_011533064.2:c.595A>T | XP_011531366.1:p.Ser199Cys | |
| NM_001382394.1:c.745A>T | NP_001369323.1:p.Ser249Cys | |
| NM_001382395.1:c.766A>T | NP_001369324.1:p.Ser256Cys | |
| NM_005633.4:c.766A>T MANE Select | NP_005624.2:p.Ser256Cys |