Revel Score:
ENST00000370225 (MANE Select)
0.971
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94042817C>T , CM000663.2:g.94042817C>T | GRCh38 |
| NC_000001.10:g.94508373C>T , CM000663.1:g.94508373C>T | GRCh37 |
| NC_000001.9:g.94280961C>T | NCBI36 |
| NG_009073.1:g.83333G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3272G>A MANE Select | ENSP00000359245.3:p.Gly1091Glu | |
| ENST00000370225.3:c.3272G>A | ENSP00000359245.3:p.Gly1091Glu | |
| ENST00000536513.5:c.-64-2728G>A | ENSP00000439707.2:n.-64-2728G>A | |
| NM_000350.2:c.3272G>A | NP_000341.2:p.Gly1091Glu | |
| NM_000350.3:c.3272G>A MANE Select | NP_000341.2:p.Gly1091Glu |