Revel Score:
ENST00000262367 (MANE Select)
0.893
ENST00000543883
0.893
ENST00000382070
0.893
ENST00000323508
0.893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3738577T>A , CM000678.2:g.3738577T>A | GRCh38 |
| NC_000016.9:g.3788578T>A , CM000678.1:g.3788578T>A | GRCh37 |
| NC_000016.8:g.3728579T>A | NCBI36 |
| NG_009873.1:g.146544A>T | |
| NG_009873.2:g.147137A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4376A>T MANE Select | ENSP00000262367.5:p.Glu1459Val | |
| ENST00000262367.9:c.4376A>T | ENSP00000262367.5:p.Glu1459Val | |
| ENST00000382070.7:c.4262A>T | ENSP00000371502.3:p.Glu1421Val | |
| ENST00000570939.2:c.3011A>T | ENSP00000461002.2:p.Glu1004Val | |
| ENST00000574740.1:n.216-1762A>T | ||
| ENST00000576720.1:n.3217+1001A>T | ||
| NM_001079846.1:c.4262A>T | NP_001073315.1:p.Glu1421Val | |
| NM_004380.2:c.4376A>T | NP_004371.2:p.Glu1459Val | |
| XM_005255124.3:c.4331A>T | XP_005255181.1:p.Glu1444Val | |
| XM_005255125.3:c.3959A>T | XP_005255182.1:p.Glu1320Val | |
| XM_006720848.2:c.4134-1762A>T | XP_006720911.1:n.4134-1762A>T | |
| XM_011522380.1:c.4322A>T | XP_011520682.1:p.Glu1441Val | |
| XM_011522381.1:c.3623A>T | XP_011520683.1:p.Glu1208Val | |
| XM_005255124.4:c.4331A>T | XP_005255181.1:p.Glu1444Val | |
| XM_005255125.4:c.3959A>T | XP_005255182.1:p.Glu1320Val | |
| XM_006720848.3:c.4134-1762A>T | XP_006720911.1:n.4134-1762A>T | |
| XM_011522381.2:c.3623A>T | XP_011520683.1:p.Glu1208Val | |
| XM_017022944.1:c.4370A>T | XP_016878433.1:p.Glu1457Val | |
| NM_004380.3:c.4376A>T MANE Select | NP_004371.2:p.Glu1459Val |