Revel Score:
ENST00000405271
0.756
ENST00000263735 (MANE Select)
0.756
gnomAD v4:
Joint Max Group AF
0.00000366 (SAS)
Exomes Max Group AF
0.00000386 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47375237G>T , CM000664.2:g.47375237G>T | GRCh38 |
| NC_000002.11:g.47602376G>T , CM000664.1:g.47602376G>T | GRCh37 |
| NC_000002.10:g.47455880G>T | NCBI36 |
| NG_012352.2:g.35075G>T , LRG_215:g.35075G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.429G>T MANE Select | ENSP00000263735.4:p.Trp143Cys | |
| ENST00000263735.8:c.429G>T | ENSP00000263735.4:p.Trp143Cys | |
| ENST00000405271.5:c.513G>T | ENSP00000385476.1:p.Trp171Cys | |
| ENST00000456133.5:c.513G>T | ENSP00000410675.1:p.Trp171Cys | |
| ENST00000474691.1:n.697G>T | ||
| ENST00000490733.1:n.278G>T | ||
| NM_002354.2:c.429G>T , LRG_215t1:c.429G>T | NP_002345.2:p.Trp143Cys | |
| NM_002354.3:c.429G>T MANE Select | NP_002345.2:p.Trp143Cys |