Revel Score:
ENST00000262367 (MANE Select)
0.972
ENST00000543883
0.972
ENST00000382070
0.972
ENST00000323508
0.972
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736702T>A , CM000678.2:g.3736702T>A | GRCh38 |
| NC_000016.9:g.3786703T>A , CM000678.1:g.3786703T>A | GRCh37 |
| NC_000016.8:g.3726704T>A | NCBI36 |
| NG_009873.1:g.148419A>T | |
| NG_009873.2:g.149012A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4508A>T MANE Select | ENSP00000262367.5:p.Tyr1503Phe | |
| ENST00000262367.9:c.4508A>T | ENSP00000262367.5:p.Tyr1503Phe | |
| ENST00000382070.7:c.4394A>T | ENSP00000371502.3:p.Tyr1465Phe | |
| ENST00000570939.2:c.3143A>T | ENSP00000461002.2:p.Tyr1048Phe | |
| ENST00000571763.5:n.298A>T | ||
| ENST00000574740.1:n.329A>T | ||
| ENST00000576720.1:n.3331A>T | ||
| NM_001079846.1:c.4394A>T | NP_001073315.1:p.Tyr1465Phe | |
| NM_004380.2:c.4508A>T | NP_004371.2:p.Tyr1503Phe | |
| XM_005255124.3:c.4463A>T | XP_005255181.1:p.Tyr1488Phe | |
| XM_005255125.3:c.4091A>T | XP_005255182.1:p.Tyr1364Phe | |
| XM_006720848.2:c.4247A>T | XP_006720911.1:p.Tyr1416Phe | |
| XM_011522380.1:c.4454A>T | XP_011520682.1:p.Tyr1485Phe | |
| XM_011522381.1:c.3755A>T | XP_011520683.1:p.Tyr1252Phe | |
| XM_005255124.4:c.4463A>T | XP_005255181.1:p.Tyr1488Phe | |
| XM_005255125.4:c.4091A>T | XP_005255182.1:p.Tyr1364Phe | |
| XM_006720848.3:c.4247A>T | XP_006720911.1:p.Tyr1416Phe | |
| XM_011522381.2:c.3755A>T | XP_011520683.1:p.Tyr1252Phe | |
| XM_017022944.1:c.4502A>T | XP_016878433.1:p.Tyr1501Phe | |
| NM_004380.3:c.4508A>T MANE Select | NP_004371.2:p.Tyr1503Phe |