Revel Score:
ENST00000262367 (MANE Select)
0.795
ENST00000543883
0.795
ENST00000382070
0.795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3739674G>A , CM000678.2:g.3739674G>A | GRCh38 |
| NC_000016.9:g.3789675G>A , CM000678.1:g.3789675G>A | GRCh37 |
| NC_000016.8:g.3729676G>A | NCBI36 |
| NG_009873.1:g.145447C>T | |
| NG_009873.2:g.146040C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4184C>T MANE Select | ENSP00000262367.5:p.Ala1395Val | |
| ENST00000262367.9:c.4184C>T | ENSP00000262367.5:p.Ala1395Val | |
| ENST00000382070.7:c.4070C>T | ENSP00000371502.3:p.Ala1357Val | |
| ENST00000570939.2:c.2819C>T | ENSP00000461002.2:p.Ala940Val | |
| ENST00000573517.6:c.490C>T | ||
| ENST00000574740.1:n.215+725C>T | ||
| ENST00000576720.1:n.3121C>T | ||
| NM_001079846.1:c.4070C>T | NP_001073315.1:p.Ala1357Val | |
| NM_004380.2:c.4184C>T | NP_004371.2:p.Ala1395Val | |
| XM_005255124.3:c.4139C>T | XP_005255181.1:p.Ala1380Val | |
| XM_005255125.3:c.3767C>T | XP_005255182.1:p.Ala1256Val | |
| XM_006720848.2:c.4133+725C>T | XP_006720911.1:n.4133+725C>T | |
| XM_011522380.1:c.4130C>T | XP_011520682.1:p.Ala1377Val | |
| XM_011522381.1:c.3431C>T | XP_011520683.1:p.Ala1144Val | |
| XM_005255124.4:c.4139C>T | XP_005255181.1:p.Ala1380Val | |
| XM_005255125.4:c.3767C>T | XP_005255182.1:p.Ala1256Val | |
| XM_006720848.3:c.4133+725C>T | XP_006720911.1:n.4133+725C>T | |
| XM_011522381.2:c.3431C>T | XP_011520683.1:p.Ala1144Val | |
| XM_017022944.1:c.4178C>T | XP_016878433.1:p.Ala1393Val | |
| NM_004380.3:c.4184C>T MANE Select | NP_004371.2:p.Ala1395Val |