Revel Score:
ENST00000253408
0.930
ENST00000421021
0.930
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44908075G>A , CM000679.2:g.44908075G>A | GRCh38 |
| NC_000017.10:g.42985443G>A , CM000679.1:g.42985443G>A | GRCh37 |
| NC_000017.9:g.40340969G>A | NCBI36 |
| NG_008401.1:g.12472C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.1366C>T | ENSP00000253408.5:p.Arg456Trp | |
| ENST00000253408.10:c.1366C>T | ENSP00000253408.5:p.Arg456Trp | |
| ENST00000441312.2:n.99C>T | ||
| ENST00000585543.6:n.399C>T | ||
| ENST00000586125.2:c.181C>T | ENSP00000467397.2:p.Arg61Trp | |
| ENST00000588735.3:c.1246C>T MANE Select | ENSP00000466598.2:p.Arg416Trp | |
| ENST00000589701.2:n.2153C>T | ||
| ENST00000591880.2:c.345C>T | ||
| ENST00000592065.2:n.614C>T | ||
| ENST00000638304.1:c.165C>T | ||
| ENST00000638400.1:c.81C>T | ||
| ENST00000638488.1:n.710C>T | ||
| ENST00000638618.1:c.901C>T | ENSP00000492832.1:p.Arg301Trp | |
| ENST00000638921.1:n.173C>T | ||
| ENST00000639042.1:c.218C>T | ||
| ENST00000639243.1:c.2C>T | ||
| ENST00000639277.1:c.1246C>T | ENSP00000492432.1:p.Arg416Trp | |
| ENST00000639369.1:c.96C>T | ||
| ENST00000640545.1:c.52C>T | ENSP00000491735.1:p.Arg18Trp | |
| ENST00000640859.1:c.60C>T | ||
| ENST00000253408.9:c.1246C>T | ENSP00000253408.4:p.Arg416Trp | |
| ENST00000585543.5:n.399C>T | ||
| ENST00000588735.1:c.124C>T | ENSP00000466598.1:p.Arg42Trp | |
| ENST00000589701.1:n.148C>T | ||
| ENST00000591880.1:c.112C>T | ENSP00000467530.1:p.Arg38Trp | |
| ENST00000592065.1:n.40C>T | ||
| ENST00000592706.5:n.118C>T | ||
| NM_002055.4:c.1246C>T | NP_002046.1:p.Arg416Trp | |
| NM_001363846.1:c.1366C>T | NP_001350775.1:p.Arg456Trp | |
| XM_024450690.1:c.1570C>T | XP_024306458.1:p.Arg524Trp | |
| XM_024450692.1:c.1450C>T | XP_024306460.1:p.Arg484Trp | |
| NM_002055.5:c.1246C>T MANE Select | NP_002046.1:p.Arg416Trp | |
| NM_001363846.2:c.1366C>T | NP_001350775.1:p.Arg456Trp |