ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001533 (NFE)
Exomes Max Group AF
0.00001543 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50555643G>A , CM000679.2:g.50555643G>A | GRCh38 |
| NC_000017.10:g.48633004G>A , CM000679.1:g.48633004G>A | GRCh37 |
| NC_000017.9:g.45988003G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000006658.11:c.2390G>A MANE Select | ENSP00000006658.6:p.Arg797Gln | |
| ENST00000006658.10:c.2390G>A | ENSP00000006658.6:p.Arg797Gln | |
| ENST00000356488.8:c.2342G>A | ENSP00000348878.4:p.Arg781Gln | |
| ENST00000503063.5:n.3023G>A | ||
| ENST00000503127.5:c.*2313G>A | ENSP00000426228.1:n.*2313G>A | |
| ENST00000504334.5:c.*2405G>A | ENSP00000424215.1:n.*2405G>A | |
| ENST00000511937.5:c.*808G>A | ENSP00000489476.1:n.*808G>A | |
| ENST00000619622.4:c.2210G>A | ENSP00000483295.1:p.Arg737Gln | |
| ENST00000634597.1:c.2342G>A | ENSP00000489591.1:p.Arg781Gln | |
| NM_001258372.1:c.2342G>A | NP_001245301.1:p.Arg781Gln | |
| NM_001258373.1:c.2210G>A | NP_001245302.1:p.Arg737Gln | |
| NM_022827.3:c.2390G>A | NP_073738.2:p.Arg797Gln | |
| NM_022827.4:c.2390G>A MANE Select | NP_073738.2:p.Arg797Gln | |
| NM_001258372.2:c.2342G>A | NP_001245301.1:p.Arg781Gln | |
| NM_001258373.2:c.2210G>A | NP_001245302.1:p.Arg737Gln |