Linked Data
dbSNP Id:
rs5446
gnomAD v2:
12-6956462-C-T
gnomAD v3:
12-6847298-C-T
gnomAD v4:
12-6847298-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6847298C>T , CM000674.2:g.6847298C>T | GRCh38 |
| NC_000012.11:g.6956462C>T , CM000674.1:g.6956462C>T | GRCh37 |
| NC_000012.10:g.6826723C>T | NCBI36 |
| NG_009100.1:g.12088C>T | |
| NG_009100.2:g.12088C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229264.8:c.*400C>T (GNB3) MANE Select | ENSP00000229264.3:n.*400C>T | |
| ENST00000229264.7:c.*400C>T (GNB3) | ENSP00000229264.3:n.*400C>T | |
| ENST00000422785.7:c.545-395G>A (CDCA3) | ENSP00000415142.2:n.545-395G>A | |
| ENST00000540458.5:n.2774C>T (GNB3) | ||
| ENST00000542751.1:n.943C>T (GNB3) | ||
| ENST00000603043.1:n.308-395G>A (CDCA3) | ||
| ENST00000604599.1:n.813-395G>A (CDCA3) | ||
| NM_001297571.1:c.*400C>T (GNB3) | NP_001284500.1:n.*400C>T | |
| NM_001297603.1:c.545-395G>A (CDCA3) | NP_001284532.1:n.545-395G>A | |
| NM_002075.3:c.*400C>T (GNB3) | NP_002066.1:n.*400C>T | |
| XM_011521027.1:c.*983-395G>A (CDCA3) | XP_011519329.1:n.*983-395G>A | |
| XM_011521028.1:c.*983-395G>A (CDCA3) | XP_011519330.1:n.*983-395G>A | |
| XM_011521029.1:c.*1201-395G>A (CDCA3) | XP_011519331.1:n.*1201-395G>A | |
| XM_011521030.1:c.*1134-395G>A (CDCA3) | XP_011519332.1:n.*1134-395G>A | |
| NM_001297603.2:c.545-395G>A (CDCA3) | NP_001284532.1:n.545-395G>A | |
| XR_001748879.2:n.2528-395G>A (CDCA3) | ||
| XR_001748880.2:n.1879-395G>A (CDCA3) | ||
| XR_001748881.2:n.1788-395G>A (CDCA3) | ||
| XR_002957383.1:n.2030-395G>A (CDCA3) | ||
| XR_002957384.1:n.2941-395G>A (CDCA3) | ||
| XR_002957385.1:n.2421-395G>A (CDCA3) | ||
| NM_001297571.2:c.*400C>T (GNB3) | NP_001284500.1:n.*400C>T | |
| NM_002075.4:c.*400C>T (GNB3) MANE Select | NP_002066.1:n.*400C>T | |
| NM_001297603.3:c.545-395G>A (CDCA3) | NP_001284532.1:n.545-395G>A |