Revel Score:
ENST00000380152 (MANE Select)
0.619
ENST00000544455
0.619
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394749G>T , CM000675.2:g.32394749G>T | GRCh38 |
| NC_000013.10:g.32968886G>T , CM000675.1:g.32968886G>T | GRCh37 |
| NC_000013.9:g.31866886G>T | NCBI36 |
| NG_012772.3:g.84270G>T , LRG_293:g.84270G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9317G>T | ENSP00000434898.2:p.Trp3106Leu | |
| ENST00000528762.2:c.*684G>T | ENSP00000433168.2:n.*684G>T | |
| ENST00000530893.7:c.8948G>T | ENSP00000499438.2:p.Trp2983Leu | |
| ENST00000665585.2:c.*879G>T | ENSP00000499570.2:n.*879G>T | |
| ENST00000666593.2:c.*162G>T | ENSP00000499256.2:n.*162G>T | |
| ENST00000700202.2:c.9266G>T | ENSP00000514856.2:p.Trp3089Leu | |
| ENST00000700202.1:c.1733G>T | ENSP00000514856.1:p.Trp578Leu | |
| ENST00000700203.1:n.1444G>T | ||
| ENST00000380152.8:c.9317G>T MANE Select | ENSP00000369497.3:p.Trp3106Leu | |
| ENST00000544455.6:c.9317G>T | ENSP00000439902.1:p.Trp3106Leu | |
| ENST00000614259.2:c.9325G>T | ENSP00000506251.1:n.9325G>T | |
| ENST00000665585.1:c.2195G>T | ||
| ENST00000666593.1:c.339G>T | ENSP00000499256.1:n.339G>T | |
| ENST00000680887.1:c.9317G>T | ENSP00000505508.1:p.Trp3106Leu | |
| ENST00000380152.7:c.9317G>T | ENSP00000369497.3:p.Trp3106Leu | |
| ENST00000470094.1:c.274G>T | ||
| ENST00000544455.5:c.9317G>T | ENSP00000439902.1:p.Trp3106Leu | |
| NM_000059.3:c.9317G>T , LRG_293t1:c.9317G>T | NP_000050.2:p.Trp3106Leu | |
| XM_011535203.1:c.9317G>T | XP_011533505.1:p.Trp3106Leu | |
| XM_011535204.1:c.9221G>T | XP_011533506.1:p.Trp3074Leu | |
| NM_000059.4:c.9317G>T MANE Select | NP_000050.3:p.Trp3106Leu |