Revel Score:
ENST00000276077
0.069
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.79171491T>G , CM000685.2:g.79171491T>G | GRCh38 |
| NC_000023.10:g.78426988T>G , CM000685.1:g.78426988T>G | GRCh37 |
| NC_000023.9:g.78313644T>G | NCBI36 |
| NG_016565.1:g.5520T>G | |
| NG_016565.2:g.5520T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645147.2:c.484T>G MANE Select | ENSP00000494310.1:p.Ser162Ala | |
| ENST00000276077.1:c.484T>G | ENSP00000276077.1:p.Ser162Ala | |
| NM_032553.1:c.484T>G | NP_115942.1:p.Ser162Ala | |
| NM_032553.2:c.484T>G | NP_115942.1:p.Ser162Ala | |
| XR_001755901.2:n.760+14573T>G | ||
| XR_001755902.2:n.777+14573T>G | ||
| XR_001755903.2:n.756+14573T>G | ||
| NM_032553.3:c.484T>G MANE Select | NP_115942.1:p.Ser162Ala |