Revel Score:
ENST00000422785
0.277
ENST00000229264 (MANE Select)
0.777
ENST00000435982
0.777
gnomAD v4:
Joint Max Group AF
0.00000368 (NFE)
Exomes Max Group AF
0.00000391 (NFE)
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6846892G>C , CM000674.2:g.6846892G>C | GRCh38 |
| NC_000012.11:g.6956056G>C , CM000674.1:g.6956056G>C | GRCh37 |
| NC_000012.10:g.6826317G>C | NCBI36 |
| NG_009100.1:g.11682G>C | |
| NG_009100.2:g.11682G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229264.8:c.1017G>C (GNB3) MANE Select | ENSP00000229264.3:p.Trp339Cys | |
| ENST00000229264.7:c.1017G>C (GNB3) | ENSP00000229264.3:p.Trp339Cys | |
| ENST00000422785.7:c.556C>G (CDCA3) | ENSP00000415142.2:p.Pro186Ala | |
| ENST00000435982.6:c.1014G>C (GNB3) | ENSP00000414734.2:p.Trp338Cys | |
| ENST00000540458.5:n.2368G>C (GNB3) | ||
| ENST00000542751.1:n.537G>C (GNB3) | ||
| ENST00000603043.1:n.319C>G (CDCA3) | ||
| ENST00000604599.1:n.824C>G (CDCA3) | ||
| NM_001297571.1:c.1014G>C (GNB3) | NP_001284500.1:p.Trp338Cys | |
| NM_001297603.1:c.556C>G (CDCA3) | NP_001284532.1:p.Pro186Ala | |
| NM_002075.3:c.1017G>C (GNB3) | NP_002066.1:p.Trp339Cys | |
| XM_011521027.1:c.*994C>G (CDCA3) | XP_011519329.1:n.*994C>G | |
| XM_011521028.1:c.*994C>G (CDCA3) | XP_011519330.1:n.*994C>G | |
| XM_011521029.1:c.*1212C>G (CDCA3) | XP_011519331.1:n.*1212C>G | |
| XM_011521030.1:c.*1145C>G (CDCA3) | XP_011519332.1:n.*1145C>G | |
| NM_001297603.2:c.556C>G (CDCA3) | NP_001284532.1:p.Pro186Ala | |
| XR_001748879.2:n.2539C>G (CDCA3) | ||
| XR_001748880.2:n.1890C>G (CDCA3) | ||
| XR_001748881.2:n.1799C>G (CDCA3) | ||
| XR_002957383.1:n.2041C>G (CDCA3) | ||
| XR_002957384.1:n.2952C>G (CDCA3) | ||
| XR_002957385.1:n.2432C>G (CDCA3) | ||
| NM_001297571.2:c.1014G>C (GNB3) | NP_001284500.1:p.Trp338Cys | |
| NM_002075.4:c.1017G>C (GNB3) MANE Select | NP_002066.1:p.Trp339Cys | |
| NM_001297603.3:c.556C>G (CDCA3) | NP_001284532.1:p.Pro186Ala |