Revel Score:
ENST00000316623 (MANE Select)
0.907
ENST00000389087
0.907
ENST00000544030
0.907
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48456694A>T , CM000677.2:g.48456694A>T | GRCh38 |
| NC_000015.9:g.48748891A>T , CM000677.1:g.48748891A>T | GRCh37 |
| NC_000015.8:g.46536183A>T | NCBI36 |
| NG_008805.2:g.194095T>A , LRG_778:g.194095T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5365T>A | ENSP00000453958.2:p.Phe1789Ile | |
| ENST00000674301.2:c.5365T>A | ENSP00000501333.2:p.Phe1789Ile | |
| ENST00000684448.1:n.4039T>A | ||
| ENST00000316623.10:c.5365T>A MANE Select | ENSP00000325527.5:p.Phe1789Ile | |
| ENST00000674301.1:c.364T>A | ENSP00000501333.1:p.Phe122Ile | |
| ENST00000316623.9:c.5365T>A | ENSP00000325527.5:p.Phe1789Ile | |
| ENST00000537463.6:c.*1128T>A | ENSP00000440294.2:n.*1128T>A | |
| ENST00000559133.5:c.672T>A | ||
| NM_000138.4:c.5365T>A , LRG_778t1:c.5365T>A | NP_000129.3:p.Phe1789Ile | |
| NM_000138.5:c.5365T>A MANE Select | NP_000129.3:p.Phe1789Ile |