Revel Score:
ENST00000370396 (MANE Select)
0.940
ENST00000542741
0.940
ENST00000543350
0.940
ENST00000413012
0.940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150649884T>C , CM000685.2:g.150649884T>C | GRCh38 |
| NC_000023.10:g.149818357T>C , CM000685.1:g.149818357T>C | GRCh37 |
| NC_000023.9:g.149569015T>C | NCBI36 |
| NG_008199.1:g.86311T>C , LRG_839:g.86311T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684910.1:c.*569T>C | ENSP00000509844.1:n.*569T>C | |
| ENST00000685439.1:c.691T>C | ENSP00000508454.1:p.Trp231Arg | |
| ENST00000685944.1:c.1036T>C | ENSP00000509266.1:p.Trp346Arg | |
| ENST00000686212.1:n.638T>C | ||
| ENST00000687215.1:c.*791T>C | ENSP00000509706.1:n.*791T>C | |
| ENST00000688152.1:c.*480T>C | ENSP00000509360.1:n.*480T>C | |
| ENST00000688403.1:c.292T>C | ENSP00000508944.1:p.Trp98Arg | |
| ENST00000689314.1:c.1081T>C | ENSP00000510607.1:p.Trp361Arg | |
| ENST00000689694.1:c.1036T>C | ENSP00000508718.1:p.Trp346Arg | |
| ENST00000689810.1:c.*685T>C | ENSP00000510635.1:n.*685T>C | |
| ENST00000690282.1:c.292T>C | ENSP00000509809.1:p.Trp98Arg | |
| ENST00000690351.1:c.*688T>C | ENSP00000509728.1:n.*688T>C | |
| ENST00000691232.1:c.691T>C | ENSP00000509675.1:p.Trp231Arg | |
| ENST00000691482.1:n.2051T>C | ||
| ENST00000691686.1:c.1036T>C | ENSP00000509784.1:p.Trp346Arg | |
| ENST00000691851.1:c.1036T>C | ENSP00000510106.1:p.Trp346Arg | |
| ENST00000692015.1:c.823T>C | ENSP00000510634.1:p.Trp275Arg | |
| ENST00000692638.1:c.*841T>C | ENSP00000509412.1:n.*841T>C | |
| ENST00000692852.1:c.847T>C | ENSP00000510337.1:p.Trp283Arg | |
| ENST00000692915.1:c.*1182T>C | ENSP00000508547.1:n.*1182T>C | |
| ENST00000370396.7:c.1036T>C MANE Select | ENSP00000359423.3:p.Trp346Arg | |
| ENST00000306167.11:n.903T>C | ||
| ENST00000370396.6:c.1036T>C | ENSP00000359423.2:p.Trp346Arg | |
| NM_000252.2:c.1036T>C , LRG_839t1:c.1036T>C | NP_000243.1:p.Trp346Arg | |
| XM_005274687.2:c.1036T>C | XP_005274744.1:p.Trp346Arg | |
| XM_011531170.1:c.1102T>C | XP_011529472.1:p.Trp368Arg | |
| XM_011531171.1:c.1081T>C | XP_011529473.1:p.Trp361Arg | |
| XM_011531172.1:c.1081T>C | XP_011529474.1:p.Trp361Arg | |
| XM_011531173.1:c.1036T>C | XP_011529475.1:p.Trp346Arg | |
| XM_011531173.2:c.1036T>C | XP_011529475.1:p.Trp346Arg | |
| XM_017029547.1:c.1081T>C | XP_016885036.1:p.Trp361Arg | |
| XM_017029548.1:c.1081T>C | XP_016885037.1:p.Trp361Arg | |
| XM_017029549.1:c.1036T>C | XP_016885038.1:p.Trp346Arg | |
| XM_017029550.1:c.925T>C | XP_016885039.1:p.Trp309Arg | |
| XM_017029551.2:c.292T>C | XP_016885040.1:p.Trp98Arg | |
| NM_000252.3:c.1036T>C MANE Select | NP_000243.1:p.Trp346Arg | |
| NM_001376906.1:c.1036T>C | NP_001363835.1:p.Trp346Arg | |
| NM_001376907.1:c.925T>C | NP_001363836.1:p.Trp309Arg | |
| NM_001376908.1:c.1036T>C | NP_001363837.1:p.Trp346Arg |