Revel Score:
ENST00000542307
0.119
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0012961 (NFE)
Genomes Max Group AF
0.00129093 (NFE)
Exomes Max Group AF
0.00128361 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89222511C>T , CM000672.2:g.89222511C>T | GRCh38 |
| NC_000010.10:g.90982268C>T , CM000672.1:g.90982268C>T | GRCh37 |
| NC_000010.9:g.90972248C>T | NCBI36 |
| NG_008194.1:g.34393G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.894G>A MANE Select | ENSP00000337354.5:p.Gln298= | |
| ENST00000336233.9:c.894G>A | ENSP00000337354.5:p.Gln298= | |
| ENST00000371837.5:c.726G>A | ENSP00000360903.1:p.Gln242= | |
| ENST00000456827.5:c.546G>A | ENSP00000413019.2:p.Gln182= | |
| NM_000235.3:c.894G>A | NP_000226.2:p.Gln298= | |
| NM_001127605.2:c.894G>A | NP_001121077.1:p.Gln298= | |
| NM_001288979.1:c.546G>A | NP_001275908.1:p.Gln182= | |
| XM_024448023.1:c.894G>A | XP_024303791.1:p.Gln298= | |
| NM_000235.4:c.894G>A MANE Select | NP_000226.2:p.Gln298= | |
| NM_001127605.3:c.894G>A | NP_001121077.1:p.Gln298= | |
| NM_001288979.2:c.546G>A | NP_001275908.1:p.Gln182= |