Revel Score:
ENST00000298049
0.318
ENST00000217182 (MANE Select)
0.318
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63488423G>A , CM000682.2:g.63488423G>A | GRCh38 |
| NC_000020.10:g.62119776G>A , CM000682.1:g.62119776G>A | GRCh37 |
| NC_000020.9:g.61590220G>A | NCBI36 |
| NG_034083.1:g.15893C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706948.1:c.1265-40C>T | ENSP00000516668.1:n.1265-40C>T | |
| ENST00000706949.1:c.1267C>T | ENSP00000516669.1:p.Arg423Cys | |
| ENST00000217182.6:c.1267C>T MANE Select | ENSP00000217182.3:p.Arg423Cys | |
| ENST00000298049.12:c.1267C>T | ENSP00000298049.8:p.Arg423Cys | |
| ENST00000675519.1:c.*1139C>T | ENSP00000501859.1:n.*1139C>T | |
| ENST00000217182.4:c.1267C>T | ENSP00000217182.3:p.Arg423Cys | |
| ENST00000298049.11:c.1267C>T | ENSP00000298049.7:p.Arg423Cys | |
| NM_001958.3:c.1267C>T | NP_001949.1:p.Arg423Cys | |
| NM_001958.4:c.1267C>T | NP_001949.1:p.Arg423Cys | |
| NM_001958.5:c.1267C>T MANE Select | NP_001949.1:p.Arg423Cys |