Revel Score:
ENST00000405093 (MANE Select)
0.812
ENST00000356287
0.812
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00073055 (EAS)
Genomes Max Group AF
0.00015684 (EAS)
Exomes Max Group AF
0.00075975 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23392968C>G , CM000676.2:g.23392968C>G | GRCh38 |
| NC_000014.8:g.23862177C>G , CM000676.1:g.23862177C>G | GRCh37 |
| NC_000014.7:g.22932017C>G | NCBI36 |
| NG_023444.1:g.20310G>C , LRG_389:g.20310G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.3195G>C MANE Select | ENSP00000386041.3:p.Gln1065His | |
| ENST00000356287.3:c.3195G>C | ENSP00000348634.3:p.Gln1065His | |
| ENST00000405093.7:c.3195G>C | ENSP00000386041.3:p.Gln1065His | |
| NM_002471.3:c.3195G>C , LRG_389t1:c.3195G>C | NP_002462.2:p.Gln1065His | |
| NM_002471.4:c.3195G>C MANE Select | NP_002462.2:p.Gln1065His |