Revel Score:
ENST00000333646
0.711
ENST00000536756
0.711
ENST00000374102
0.711
ENST00000374080 (MANE Select)
0.711
ENST00000430072
0.711
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71127367C>T , CM000685.2:g.71127367C>T | GRCh38 |
| NC_000023.10:g.70347217C>T , CM000685.1:g.70347217C>T | GRCh37 |
| NC_000023.9:g.70263942C>T | NCBI36 |
| NG_012808.1:g.13812C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333646.11:c.2761C>T | ENSP00000333125.8:p.Arg921Trp | |
| ENST00000374102.6:c.2881C>T | ENSP00000363215.2:p.Arg961Trp | |
| ENST00000462984.2:n.1413C>T | ||
| ENST00000686548.1:c.*2777C>T | ENSP00000509582.1:n.*2777C>T | |
| ENST00000687382.1:c.2881C>T | ENSP00000510724.1:p.Arg961Trp | |
| ENST00000688079.1:n.451C>T | ||
| ENST00000688663.1:c.2881C>T | ENSP00000509348.1:p.Arg961Trp | |
| ENST00000689768.1:n.1491C>T | ||
| ENST00000690145.1:c.2881C>T | ENSP00000508818.1:p.Arg961Trp | |
| ENST00000690242.1:c.2881C>T | ENSP00000510090.1:p.Arg961Trp | |
| ENST00000690828.1:n.3037C>T | ||
| ENST00000691113.1:c.935C>T | ENSP00000509755.1:n.935C>T | |
| ENST00000691426.1:n.1112C>T | ||
| ENST00000691468.1:c.2830C>T | ENSP00000509011.1:p.Arg944Trp | |
| ENST00000692304.1:c.2881C>T | ENSP00000508427.1:p.Arg961Trp | |
| ENST00000693324.1:c.2800C>T | ENSP00000508643.1:p.Arg934Trp | |
| ENST00000693391.1:c.826C>T | ENSP00000509563.1:p.Arg276Trp | |
| ENST00000374080.8:c.2881C>T MANE Select | ENSP00000363193.3:p.Arg961Trp | |
| ENST00000333646.10:c.2422C>T | ENSP00000333125.7:p.Arg808Trp | |
| ENST00000374080.7:c.2881C>T | ENSP00000363193.3:p.Arg961Trp | |
| ENST00000374102.5:c.2881C>T | ENSP00000363215.1:p.Arg961Trp | |
| ENST00000462984.1:n.307C>T | ||
| ENST00000471663.5:n.420C>T | ||
| NM_005120.2:c.2881C>T | NP_005111.2:p.Arg961Trp | |
| XM_005262317.1:c.2881C>T | XP_005262374.1:p.Arg961Trp | |
| XM_005262319.1:c.2881C>T | XP_005262376.1:p.Arg961Trp | |
| NM_005120.3:c.2881C>T MANE Select | NP_005111.2:p.Arg961Trp |