Revel Score:
ENST00000369066
0.286
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.106539495A>T , CM000668.2:g.106539495A>T | GRCh38 |
| NC_000006.11:g.106987370A>T , CM000668.1:g.106987370A>T | GRCh37 |
| NC_000006.10:g.107094063A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000633556.3:c.4811A>T MANE Select | ENSP00000488010.2:p.Glu1604Val | |
| ENST00000369066.7:c.3587A>T | ENSP00000358062.3:p.Glu1196Val | |
| ENST00000633556.1:c.4811A>T | ENSP00000488010.1:p.Glu1604Val | |
| NM_001624.3:c.3587A>T | NP_001615.2:p.Glu1196Val | |
| XM_005266839.2:c.4811A>T | XP_005266896.1:p.Glu1604Val | |
| XM_005266839.3:c.4811A>T | XP_005266896.1:p.Glu1604Val | |
| XM_017010333.1:c.3587A>T | XP_016865822.1:p.Glu1196Val | |
| NM_001371242.2:c.4811A>T MANE Select | NP_001358171.1:p.Glu1604Val | |
| NM_001624.4:c.3587A>T | NP_001615.2:p.Glu1196Val |