Revel Score:
ENST00000369066
0.188
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.106539495A>G , CM000668.2:g.106539495A>G | GRCh38 |
| NC_000006.11:g.106987370A>G , CM000668.1:g.106987370A>G | GRCh37 |
| NC_000006.10:g.107094063A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000633556.3:c.4811A>G MANE Select | ENSP00000488010.2:p.Glu1604Gly | |
| ENST00000369066.7:c.3587A>G | ENSP00000358062.3:p.Glu1196Gly | |
| ENST00000633556.1:c.4811A>G | ENSP00000488010.1:p.Glu1604Gly | |
| NM_001624.3:c.3587A>G | NP_001615.2:p.Glu1196Gly | |
| XM_005266839.2:c.4811A>G | XP_005266896.1:p.Glu1604Gly | |
| XM_005266839.3:c.4811A>G | XP_005266896.1:p.Glu1604Gly | |
| XM_017010333.1:c.3587A>G | XP_016865822.1:p.Glu1196Gly | |
| NM_001371242.2:c.4811A>G MANE Select | NP_001358171.1:p.Glu1604Gly | |
| NM_001624.4:c.3587A>G | NP_001615.2:p.Glu1196Gly |