Linked Data
ClinVar Variation Id:
226004
dbSNP Id:
rs5443
ExAC:
12:6954875 C / T
gnomAD v2:
12-6954875-C-T
gnomAD v3:
12-6845711-C-T
gnomAD v4:
12-6845711-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6845711C>T , CM000674.2:g.6845711C>T | GRCh38 |
| NC_000012.11:g.6954875C>T , CM000674.1:g.6954875C>T | GRCh37 |
| NC_000012.10:g.6825136C>T | NCBI36 |
| NG_009100.1:g.10501C>T | |
| NG_009100.2:g.10501C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229264.8:c.825C>T (GNB3) MANE Select | ENSP00000229264.3:p.Ser275= | |
| ENST00000229264.7:c.825C>T (GNB3) | ENSP00000229264.3:p.Ser275= | |
| ENST00000422785.7:c.*1077G>A (CDCA3) | ENSP00000415142.2:n.*1077G>A | |
| ENST00000435982.6:c.822C>T (GNB3) | ENSP00000414734.2:p.Ser274= | |
| ENST00000537035.1:c.702C>T (GNB3) | ENSP00000445967.1:p.Ser234= | |
| ENST00000540458.5:n.2176C>T (GNB3) | ||
| ENST00000542751.1:n.345C>T (GNB3) | ||
| ENST00000603043.1:n.1143G>A (CDCA3) | ||
| ENST00000604599.1:n.2005G>A (CDCA3) | ||
| NM_001297571.1:c.822C>T (GNB3) | NP_001284500.1:p.Ser274= | |
| NM_002075.3:c.825C>T (GNB3) | NP_002066.1:p.Ser275= | |
| XM_011520953.1:c.825C>T (GNB3) | XP_011519255.1:p.Ser275= | |
| XM_011520954.1:c.822C>T (GNB3) | XP_011519256.1:p.Ser274= | |
| XM_011521027.1:c.*1818G>A (CDCA3) | XP_011519329.1:n.*1818G>A | |
| XM_011521028.1:c.*1818G>A (CDCA3) | XP_011519330.1:n.*1818G>A | |
| XM_011521029.1:c.*2036G>A (CDCA3) | XP_011519331.1:n.*2036G>A | |
| XM_011521030.1:c.*1969G>A (CDCA3) | XP_011519332.1:n.*1969G>A | |
| XM_011520953.3:c.825C>T (GNB3) | XP_011519255.1:p.Ser275= | |
| XR_001748879.2:n.3363G>A (CDCA3) | ||
| XR_001748880.2:n.2714G>A (CDCA3) | ||
| XR_001748881.2:n.2623G>A (CDCA3) | ||
| XR_002957383.1:n.2865G>A (CDCA3) | ||
| XR_002957384.1:n.3776G>A (CDCA3) | ||
| XR_002957385.1:n.3256G>A (CDCA3) | ||
| NM_001297571.2:c.822C>T (GNB3) | NP_001284500.1:p.Ser274= | |
| NM_002075.4:c.825C>T (GNB3) MANE Select | NP_002066.1:p.Ser275= | |
| NM_001297603.3:c.*1077G>A (CDCA3) | NP_001284532.1:n.*1077G>A |