Revel Score:
ENST00000370225 (MANE Select)
0.941
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.007581 (AFR)
Genomes Max Group AF
0.00732518 (AFR)
Exomes Max Group AF
0.00741637 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94044692C>G , CM000663.2:g.94044692C>G | GRCh38 |
| NC_000001.10:g.94510248C>G , CM000663.1:g.94510248C>G | GRCh37 |
| NC_000001.9:g.94282836C>G | NCBI36 |
| NG_009073.1:g.81458G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2971G>C MANE Select | ENSP00000359245.3:p.Gly991Arg | |
| ENST00000370225.3:c.2971G>C | ENSP00000359245.3:p.Gly991Arg | |
| ENST00000536513.5:c.-64-4603G>C | ENSP00000439707.2:n.-64-4603G>C | |
| NM_000350.2:c.2971G>C | NP_000341.2:p.Gly991Arg | |
| NM_000350.3:c.2971G>C MANE Select | NP_000341.2:p.Gly991Arg |