Revel Score:
ENST00000316623 (MANE Select)
0.291
ENST00000389087
0.291
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013697 (EAS)
Genomes Max Group AF
0.0000683 (EAS)
Exomes Max Group AF
0.00011819 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48428411C>T , CM000677.2:g.48428411C>T | GRCh38 |
| NC_000015.9:g.48720608C>T , CM000677.1:g.48720608C>T | GRCh37 |
| NC_000015.8:g.46507900C>T | NCBI36 |
| NG_008805.2:g.222378G>A , LRG_778:g.222378G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6932G>A | ENSP00000453958.2:p.Arg2311His | |
| ENST00000674301.2:c.*383G>A | ENSP00000501333.2:n.*383G>A | |
| ENST00000682170.1:n.541G>A | ||
| ENST00000682767.1:n.167G>A | ||
| ENST00000316623.10:c.6932G>A MANE Select | ENSP00000325527.5:p.Arg2311His | |
| ENST00000674301.1:c.2036G>A | ENSP00000501333.1:n.2036G>A | |
| ENST00000316623.9:c.6932G>A | ENSP00000325527.5:p.Arg2311His | |
| ENST00000559133.5:c.2239G>A | ||
| ENST00000560720.1:n.219G>A | ||
| NM_000138.4:c.6932G>A , LRG_778t1:c.6932G>A | NP_000129.3:p.Arg2311His | |
| NM_000138.5:c.6932G>A MANE Select | NP_000129.3:p.Arg2311His |