Revel Score:
ENST00000396573
0.728
ENST00000404927
0.728
ENST00000330684 (MANE Select)
0.728
ENST00000396575
0.728
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10180247C>A , CM000678.2:g.10180247C>A | GRCh38 |
| NC_000016.9:g.10274104C>A , CM000678.1:g.10274104C>A | GRCh37 |
| NC_000016.8:g.10181605C>A | NCBI36 |
| NG_011812.1:g.7508G>T | |
| NG_011812.2:g.7508G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.165G>T MANE Select | ENSP00000332549.3:p.Trp55Cys | |
| ENST00000675189.1:n.649G>T | ||
| ENST00000675398.1:c.165G>T | ENSP00000502752.1:p.Trp55Cys | |
| ENST00000676032.1:n.598G>T | ||
| ENST00000330684.3:c.165G>T | ENSP00000332549.3:p.Trp55Cys | |
| ENST00000396573.6:c.165G>T | ENSP00000379818.2:p.Trp55Cys | |
| ENST00000562109.5:c.165G>T | ENSP00000454998.1:p.Trp55Cys | |
| ENST00000566665.1:n.566G>T | ||
| NM_000833.4:c.165G>T | NP_000824.1:p.Trp55Cys | |
| NM_001134407.2:c.165G>T | NP_001127879.1:p.Trp55Cys | |
| NM_001134408.2:c.165G>T | NP_001127880.1:p.Trp55Cys | |
| XM_011522461.1:c.165G>T | XP_011520763.1:p.Trp55Cys | |
| XM_011522461.3:c.165G>T | XP_011520763.1:p.Trp55Cys | |
| XM_017023172.1:c.321G>T | XP_016878661.1:p.Trp107Cys | |
| XM_017023173.1:c.321G>T | XP_016878662.1:p.Trp107Cys | |
| NM_001134407.3:c.165G>T MANE Select | NP_001127879.1:p.Trp55Cys | |
| NM_000833.5:c.165G>T | NP_000824.1:p.Trp55Cys |