Revel Score:
ENST00000253408
0.955
ENST00000421021
0.955
ENST00000435360
0.955
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44911284T>A , CM000679.2:g.44911284T>A | GRCh38 |
| NC_000017.10:g.42988652T>A , CM000679.1:g.42988652T>A | GRCh37 |
| NC_000017.9:g.40344178T>A | NCBI36 |
| NG_008401.1:g.9263A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.1079A>T | ENSP00000253408.5:p.Asp360Val | |
| ENST00000435360.8:c.1079A>T | ENSP00000403962.1:p.Asp360Val | |
| ENST00000253408.10:c.1079A>T | ENSP00000253408.5:p.Asp360Val | |
| ENST00000435360.7:c.1079A>T | ENSP00000403962.1:p.Asp360Val | |
| ENST00000585543.6:n.232A>T | ||
| ENST00000586125.2:c.14A>T | ENSP00000467397.2:p.Asp5Val | |
| ENST00000586127.6:n.1608A>T | ||
| ENST00000586793.6:c.944A>T | ENSP00000468500.2:p.Asp315Val | |
| ENST00000587997.6:n.555A>T | ||
| ENST00000588735.3:c.1079A>T MANE Select | ENSP00000466598.2:p.Asp360Val | |
| ENST00000591327.2:n.2233A>T | ||
| ENST00000591880.2:c.9A>T | ||
| ENST00000592320.6:c.656A>T | ENSP00000465320.1:p.Asp219Val | |
| ENST00000638281.1:c.1079A>T | ENSP00000491088.1:p.Asp360Val | |
| ENST00000638488.1:n.20A>T | ||
| ENST00000638618.1:c.734A>T | ENSP00000492832.1:p.Asp245Val | |
| ENST00000639042.1:c.16A>T | ||
| ENST00000639277.1:c.1079A>T | ENSP00000492432.1:p.Asp360Val | |
| ENST00000639921.1:c.36A>T | ||
| ENST00000640552.1:n.1093A>T | ||
| ENST00000253408.9:c.1079A>T | ENSP00000253408.4:p.Asp360Val | |
| ENST00000435360.6:c.1079A>T | ENSP00000403962.1:p.Asp360Val | |
| ENST00000585543.5:n.232A>T | ||
| ENST00000586793.5:c.1079A>T | ENSP00000468500.1:p.Asp360Val | |
| ENST00000587997.5:c.555A>T | ||
| ENST00000588640.5:n.459A>T | ||
| ENST00000588735.1:c.83-3168A>T | ENSP00000466598.1:n.83-3168A>T | |
| ENST00000592320.5:c.656A>T | ENSP00000465320.1:p.Asp219Val | |
| NM_001131019.2:c.1079A>T | NP_001124491.1:p.Asp360Val | |
| NM_001242376.1:c.1079A>T | NP_001229305.1:p.Asp360Val | |
| NM_002055.4:c.1079A>T | NP_002046.1:p.Asp360Val | |
| NM_001363846.1:c.1079A>T | NP_001350775.1:p.Asp360Val | |
| XM_024450690.1:c.1283A>T | XP_024306458.1:p.Asp428Val | |
| XM_024450691.1:c.1283A>T | XP_024306459.1:p.Asp428Val | |
| XM_024450692.1:c.1283A>T | XP_024306460.1:p.Asp428Val | |
| XM_024450693.1:c.1283A>T | XP_024306461.1:p.Asp428Val | |
| NM_002055.5:c.1079A>T MANE Select | NP_002046.1:p.Asp360Val | |
| NM_001131019.3:c.1079A>T | NP_001124491.1:p.Asp360Val | |
| NM_001242376.2:c.1079A>T | NP_001229305.1:p.Asp360Val | |
| NM_001242376.3:c.1079A>T | NP_001229305.1:p.Asp360Val | |
| NM_001363846.2:c.1079A>T | NP_001350775.1:p.Asp360Val |