Linked Data
dbSNP Id:
rs1395100367
gnomAD v3:
12-6847206-C-T
gnomAD v4:
12-6847206-C-T
MyVariant Identifiers:
chr12:g.6847206C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6847206C>T , CM000674.2:g.6847206C>T | GRCh38 |
| NC_000012.11:g.6956370C>T , CM000674.1:g.6956370C>T | GRCh37 |
| NC_000012.10:g.6826631C>T | NCBI36 |
| NG_009100.1:g.11996C>T | |
| NG_009100.2:g.11996C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229264.8:c.*308C>T (GNB3) MANE Select | ENSP00000229264.3:n.*308C>T | |
| ENST00000229264.7:c.*308C>T (GNB3) | ENSP00000229264.3:n.*308C>T | |
| ENST00000422785.7:c.545-303G>A (CDCA3) | ENSP00000415142.2:n.545-303G>A | |
| ENST00000540458.5:n.2682C>T (GNB3) | ||
| ENST00000542751.1:n.851C>T (GNB3) | ||
| ENST00000603043.1:n.308-303G>A (CDCA3) | ||
| ENST00000604599.1:n.813-303G>A (CDCA3) | ||
| NM_001297571.1:c.*308C>T (GNB3) | NP_001284500.1:n.*308C>T | |
| NM_001297603.1:c.545-303G>A (CDCA3) | NP_001284532.1:n.545-303G>A | |
| NM_002075.3:c.*308C>T (GNB3) | NP_002066.1:n.*308C>T | |
| XM_011521027.1:c.*983-303G>A (CDCA3) | XP_011519329.1:n.*983-303G>A | |
| XM_011521028.1:c.*983-303G>A (CDCA3) | XP_011519330.1:n.*983-303G>A | |
| XM_011521029.1:c.*1201-303G>A (CDCA3) | XP_011519331.1:n.*1201-303G>A | |
| XM_011521030.1:c.*1134-303G>A (CDCA3) | XP_011519332.1:n.*1134-303G>A | |
| NM_001297603.2:c.545-303G>A (CDCA3) | NP_001284532.1:n.545-303G>A | |
| XR_001748879.2:n.2528-303G>A (CDCA3) | ||
| XR_001748880.2:n.1879-303G>A (CDCA3) | ||
| XR_001748881.2:n.1788-303G>A (CDCA3) | ||
| XR_002957383.1:n.2030-303G>A (CDCA3) | ||
| XR_002957384.1:n.2941-303G>A (CDCA3) | ||
| XR_002957385.1:n.2421-303G>A (CDCA3) | ||
| NM_001297571.2:c.*308C>T (GNB3) | NP_001284500.1:n.*308C>T | |
| NM_002075.4:c.*308C>T (GNB3) MANE Select | NP_002066.1:n.*308C>T | |
| NM_001297603.3:c.545-303G>A (CDCA3) | NP_001284532.1:n.545-303G>A |