Revel Score:
ENST00000261590 (MANE Select)
0.594
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524865G>A , CM000680.2:g.31524865G>A | GRCh38 |
| NC_000018.9:g.29104828G>A , CM000680.1:g.29104828G>A | GRCh37 |
| NC_000018.8:g.27358826G>A | NCBI36 |
| NG_007072.3:g.31624G>A , LRG_397:g.31624G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.822G>A | ||
| ENST00000683614.2:n.822G>A | ||
| ENST00000682087.1:c.822G>A | ||
| ENST00000683614.1:c.822G>A | ||
| ENST00000261590.13:c.991G>A MANE Select | ENSP00000261590.8:p.Glu331Lys | |
| ENST00000261590.12:c.991G>A | ENSP00000261590.8:p.Glu331Lys | |
| NM_001943.3:c.991G>A , LRG_397t1:c.991G>A | NP_001934.2:p.Glu331Lys | |
| NM_001943.4:c.991G>A | NP_001934.2:p.Glu331Lys | |
| XM_024451095.1:c.457G>A | XP_024306863.1:p.Glu153Lys | |
| NM_001943.5:c.991G>A MANE Select | NP_001934.2:p.Glu331Lys |