Revel Score:
ENST00000447366
0.386
ENST00000467482 (MANE Select)
0.961
ENST00000380929
0.961
ENST00000431126
0.961
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9759390A>T , CM000685.2:g.9759390A>T | GRCh38 |
| NC_000023.10:g.9727430A>T , CM000685.1:g.9727430A>T | GRCh37 |
| NC_000023.9:g.9687430A>T | NCBI36 |
| NG_009074.1:g.11488T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467482.6:c.397T>A MANE Select | ENSP00000417161.1:p.Trp133Arg | |
| ENST00000431126.1:c.145T>A | ENSP00000406138.1:p.Trp49Arg | |
| ENST00000447366.5:c.145T>A | ENSP00000390546.2:p.Trp49Arg | |
| ENST00000467482.5:c.397T>A | ENSP00000417161.1:p.Trp133Arg | |
| ENST00000480178.1:n.5T>A | ||
| NM_000273.2:c.397T>A | NP_000264.2:p.Trp133Arg | |
| XM_005274541.2:c.397T>A | XP_005274598.1:p.Trp133Arg | |
| XM_005274541.3:c.397T>A | XP_005274598.1:p.Trp133Arg | |
| XM_024452387.1:c.145T>A | XP_024308155.1:p.Trp49Arg | |
| XM_024452388.1:c.145T>A | XP_024308156.1:p.Trp49Arg | |
| NM_000273.3:c.397T>A MANE Select | NP_000264.2:p.Trp133Arg |