Revel Score:
ENST00000345034 (MANE Select)
0.148
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15660053T>G , CM000663.2:g.15660053T>G | GRCh38 |
| NC_000001.10:g.15986548T>G , CM000663.1:g.15986548T>G | GRCh37 |
| NC_000001.9:g.15859135T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711098.1:c.1400T>G (DDI2) | ENSP00000518576.1:p.Phe467Cys | |
| ENST00000711099.1:c.*204T>G (DDI2) | ENSP00000518577.1:n.*204T>G | |
| ENST00000345034.2:c.185T>G (RSC1A1) MANE Select | ENSP00000341963.1:p.Phe62Cys | |
| ENST00000480945.6:c.*263T>G (DDI2) MANE Select | ENSP00000417748.1:n.*263T>G | |
| ENST00000320153.10:c.1072T>G (DDI2) | ENSP00000449475.1:n.1072T>G | |
| ENST00000345034.1:c.185T>G (RSC1A1) | ENSP00000341963.1:p.Phe62Cys | |
| ENST00000480945.5:c.*263T>G (DDI2) | ENSP00000417748.1:n.*263T>G | |
| NM_006511.1:c.185T>G (RSC1A1) | NP_006502.1:p.Phe62Cys | |
| NM_032341.4:c.*263T>G (DDI2) | NP_115717.3:n.*263T>G | |
| NM_006511.2:c.185T>G (RSC1A1) | NP_006502.1:p.Phe62Cys | |
| NM_032341.5:c.*263T>G (DDI2) MANE Select | NP_115717.3:n.*263T>G | |
| NM_006511.3:c.185T>G (RSC1A1) MANE Select | NP_006502.1:p.Phe62Cys |