Revel Score:
ENST00000262367 (MANE Select)
0.730
ENST00000543883
0.730
ENST00000382070
0.730
ENST00000323508
0.730
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729477T>A , CM000678.2:g.3729477T>A | GRCh38 |
| NC_000016.9:g.3779478T>A , CM000678.1:g.3779478T>A | GRCh37 |
| NC_000016.8:g.3719479T>A | NCBI36 |
| NG_009873.1:g.155644A>T | |
| NG_009873.2:g.156237A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5570A>T MANE Select | ENSP00000262367.5:p.His1857Leu | |
| ENST00000262367.9:c.5570A>T | ENSP00000262367.5:p.His1857Leu | |
| ENST00000382070.7:c.5456A>T | ENSP00000371502.3:p.His1819Leu | |
| NM_001079846.1:c.5456A>T | NP_001073315.1:p.His1819Leu | |
| NM_004380.2:c.5570A>T | NP_004371.2:p.His1857Leu | |
| XM_005255124.3:c.5525A>T | XP_005255181.1:p.His1842Leu | |
| XM_005255125.3:c.5153A>T | XP_005255182.1:p.His1718Leu | |
| XM_006720848.2:c.5309A>T | XP_006720911.1:p.His1770Leu | |
| XM_011522380.1:c.5516A>T | XP_011520682.1:p.His1839Leu | |
| XM_011522381.1:c.4817A>T | XP_011520683.1:p.His1606Leu | |
| XM_005255124.4:c.5525A>T | XP_005255181.1:p.His1842Leu | |
| XM_005255125.4:c.5153A>T | XP_005255182.1:p.His1718Leu | |
| XM_006720848.3:c.5309A>T | XP_006720911.1:p.His1770Leu | |
| XM_011522381.2:c.4817A>T | XP_011520683.1:p.His1606Leu | |
| XM_017022944.1:c.5564A>T | XP_016878433.1:p.His1855Leu | |
| NM_004380.3:c.5570A>T MANE Select | NP_004371.2:p.His1857Leu |