Revel Score:
ENST00000373203 (MANE Select)
0.235
ENST00000344849
0.235
ENST00000545345
0.235
ENST00000546301
0.235
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127817164T>A , CM000671.2:g.127817164T>A | GRCh38 |
| NC_000009.11:g.130579443T>A , CM000671.1:g.130579443T>A | GRCh37 |
| NC_000009.10:g.129619264T>A | NCBI36 |
| NG_009551.1:g.42605A>T , LRG_589:g.42605A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.1180A>T | ENSP00000479015.1:p.Ser394Cys | |
| ENST00000373203.9:c.1726A>T MANE Select | ENSP00000362299.4:p.Ser576Cys | |
| ENST00000344849.4:c.1726A>T | ENSP00000341917.3:p.Ser576Cys | |
| ENST00000373203.8:c.1726A>T | ENSP00000362299.4:p.Ser576Cys | |
| ENST00000480266.5:c.1180A>T | ENSP00000479015.1:p.Ser394Cys | |
| NM_000118.3:c.1726A>T , LRG_589t1:c.1726A>T | NP_000109.1:p.Ser576Cys | |
| NM_001114753.2:c.1726A>T , LRG_589t2:c.1726A>T | NP_001108225.1:p.Ser576Cys | |
| NM_001278138.1:c.1180A>T | NP_001265067.1:p.Ser394Cys | |
| XM_011519273.1:c.586T>A | XP_011517575.1:p.Ter196Arg | |
| NR_136302.1:n.1099T>A | ||
| NM_001114753.3:c.1726A>T MANE Select | NP_001108225.1:p.Ser576Cys | |
| NM_001278138.2:c.1180A>T | NP_001265067.1:p.Ser394Cys |