Revel Score:
ENST00000261590 (MANE Select)
0.239
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00042888 (MID)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
0.00045291 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524754A>G , CM000680.2:g.31524754A>G | GRCh38 |
| NC_000018.9:g.29104717A>G , CM000680.1:g.29104717A>G | GRCh37 |
| NC_000018.8:g.27358715A>G | NCBI36 |
| NG_007072.3:g.31513A>G , LRG_397:g.31513A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.711A>G | ||
| ENST00000683614.2:n.711A>G | ||
| ENST00000682087.1:c.711A>G | ||
| ENST00000683614.1:c.711A>G | ||
| ENST00000261590.13:c.880A>G MANE Select | ENSP00000261590.8:p.Lys294Glu | |
| ENST00000261590.12:c.880A>G | ENSP00000261590.8:p.Lys294Glu | |
| NM_001943.3:c.880A>G , LRG_397t1:c.880A>G | NP_001934.2:p.Lys294Glu | |
| NM_001943.4:c.880A>G | NP_001934.2:p.Lys294Glu | |
| XM_024451095.1:c.346A>G | XP_024306863.1:p.Lys116Glu | |
| NM_001943.5:c.880A>G MANE Select | NP_001934.2:p.Lys294Glu |