Linked Data
ClinVar Variation Id:
12155
dbSNP Id:
rs6467
ExAC:
6:32006858 C / G
gnomAD v2:
6-32006858-C-G
gnomAD v3:
6-32039081-C-G
gnomAD v4:
6-32039081-C-G
PubMed:
PMID:1644925
PMID:1985465
PMID:2325662
PMID:2845408
PMID:5804199
PMID:7096533
PMID:7635470
PMID:8081391
PMID:8968761
PMID:9521938
PMID:10857554
PMID:12788880
PMID:12915679
PMID:12930931
PMID:15964450
PMID:20301350
PMID:23359698
PMID:23692712
PMID:23891399
PMID:24778650
PMID:24904866
PMID:25041270
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039081C>G , CM000668.2:g.32039081C>G | GRCh38 |
| NC_000006.11:g.32006858C>G , CM000668.1:g.32006858C>G | GRCh37 |
| NC_000006.10:g.32114837C>G | NCBI36 |
| NG_007941.2:g.5774C>G | |
| NG_007941.3:g.5777C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.293-13C>G MANE Select | ENSP00000496625.1:n.293-13C>G | |
| ENST00000418967.6:c.293-13C>G | ENSP00000408860.2:n.293-13C>G | |
| ENST00000435122.3:c.203-13C>G | ENSP00000415043.2:n.203-13C>G | |
| ENST00000464325.5:n.230-29C>G | ||
| ENST00000466779.5:c.299C>G | ENSP00000417321.1:p.Thr100Ser | |
| ENST00000466879.5:n.331C>G | ||
| ENST00000469053.5:c.209C>G | ENSP00000418104.1:p.Thr70Ser | |
| ENST00000471671.4:c.293-13C>G | ENSP00000418561.1:n.293-13C>G | |
| ENST00000478281.5:c.313C>G | ENSP00000419572.1:p.Pro105Ala | |
| ENST00000479074.5:n.351-13C>G | ||
| ENST00000479730.5:n.448-13C>G | ||
| ENST00000480027.1:n.615C>G | ||
| ENST00000483041.5:n.449C>G | ||
| ENST00000486063.5:n.473-13C>G | ||
| ENST00000488465.1:n.301-13C>G | ||
| NM_000500.7:c.293-13C>G | NP_000491.4:n.293-13C>G | |
| NM_001128590.3:c.203-13C>G | NP_001122062.3:n.203-13C>G | |
| XM_011514314.1:c.-126C>G | XP_011512616.1:n.-126C>G | |
| NM_000500.9:c.293-13C>G MANE Select | NP_000491.4:n.293-13C>G | |
| NM_001368143.1:c.-126C>G | NP_001355072.1:n.-126C>G | |
| NM_001368144.1:c.-126C>G | NP_001355073.1:n.-126C>G | |
| NM_001128590.4:c.203-13C>G | NP_001122062.3:n.203-13C>G | |
| NM_001368143.2:c.-126C>G | NP_001355072.1:n.-126C>G | |
| NM_001368144.2:c.-126C>G | NP_001355073.1:n.-126C>G |