Revel Score:
ENST00000227752 (MANE Select)
0.061
ENST00000541785
0.061
ENST00000545409
0.061
ENST00000536858
0.061
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117994131A>T , CM000673.2:g.117994131A>T | GRCh38 |
| NC_000011.9:g.117864846A>T , CM000673.1:g.117864846A>T | GRCh37 |
| NC_000011.8:g.117370056A>T | NCBI36 |
| NG_016275.1:g.12741A>T , LRG_151:g.12741A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525467.2:n.1018A>T | ||
| ENST00000696732.1:n.2519A>T | ||
| ENST00000227752.8:c.670A>T MANE Select | ENSP00000227752.4:p.Ile224Phe | |
| ENST00000529924.6:n.2248A>T | ||
| ENST00000227752.7:c.670A>T | ENSP00000227752.3:p.Ile224Phe | |
| ENST00000526544.5:c.*206A>T | ENSP00000435317.1:n.*206A>T | |
| ENST00000529924.5:n.2248A>T | ||
| ENST00000530178.1:n.536A>T | ||
| ENST00000530761.5:n.1047A>T | ||
| ENST00000532009.1:n.486A>T | ||
| ENST00000533700.5:n.877A>T | ||
| ENST00000534574.5:c.*610A>T | ENSP00000436328.1:n.*610A>T | |
| NM_001558.3:c.670A>T , LRG_151t1:c.670A>T | NP_001549.2:p.Ile224Phe | |
| NR_026691.1:n.877A>T | ||
| XM_024448493.1:c.223A>T | XP_024304261.1:p.Ile75Phe | |
| NM_001558.4:c.670A>T MANE Select | NP_001549.2:p.Ile224Phe | |
| NR_026691.2:n.874A>T |