Revel Score:
ENST00000258385 (MANE Select)
0.923
ENST00000536614
0.923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232527436G>T , CM000664.2:g.232527436G>T | GRCh38 |
| NC_000002.11:g.233392146G>T , CM000664.1:g.233392146G>T | GRCh37 |
| NC_000002.10:g.233100390G>T | NCBI36 |
| NG_008028.1:g.6225G>T | |
| NG_031969.1:g.11974G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.234G>T MANE Select | ENSP00000258385.3:p.Trp78Cys | |
| ENST00000258385.7:c.234G>T | ENSP00000258385.3:p.Trp78Cys | |
| ENST00000412233.5:c.234G>T | ENSP00000398143.1:p.Trp78Cys | |
| ENST00000441621.6:c.234G>T | ENSP00000408819.2:p.Trp78Cys | |
| ENST00000446616.1:c.234G>T | ENSP00000410801.1:p.Trp78Cys | |
| ENST00000449596.5:c.198+762G>T | ENSP00000404950.1:n.198+762G>T | |
| ENST00000543200.5:c.198+762G>T | ENSP00000438380.1:n.198+762G>T | |
| NM_000751.2:c.234G>T | NP_000742.1:p.Trp78Cys | |
| NM_001256657.1:c.198+762G>T | NP_001243586.1:n.198+762G>T | |
| NM_001311195.1:c.-38G>T | NP_001298124.1:n.-38G>T | |
| NM_001311196.1:c.-38G>T | NP_001298125.1:n.-38G>T | |
| NR_046333.1:c.-4294967006G>T | ||
| NR_046334.1:c.-4294967006G>T | ||
| XM_011510524.1:c.-38G>T | XP_011508826.1:n.-38G>T | |
| XM_011510524.2:c.-38G>T | XP_011508826.1:n.-38G>T | |
| NM_000751.3:c.234G>T MANE Select | NP_000742.1:p.Trp78Cys | |
| NM_001311195.2:c.-38G>T | NP_001298124.1:n.-38G>T | |
| NM_001311196.2:c.-38G>T | NP_001298125.1:n.-38G>T | |
| NM_001256657.2:c.198+762G>T | NP_001243586.1:n.198+762G>T |