Linked Data
ClinVar Variation Id:
294440
dbSNP Id:
rs150894778
gnomAD v2:
1-193221675-A-G
gnomAD v3:
1-193252545-A-G
gnomAD v4:
1-193252545-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193252545A>G , CM000663.2:g.193252545A>G | GRCh38 |
| NC_000001.10:g.193221675A>G , CM000663.1:g.193221675A>G | GRCh37 |
| NC_000001.9:g.191488298A>G | NCBI36 |
| NG_012691.1:g.135588A>G , LRG_507:g.135588A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*1833A>G MANE Select | ENSP00000356405.4:n.*1833A>G | |
| ENST00000635846.1:c.*1833A>G | ENSP00000490035.1:n.*1833A>G | |
| ENST00000643006.1:c.*2339A>G | ENSP00000496633.1:n.*2339A>G | |
| ENST00000367435.3:c.*1833A>G | ENSP00000356405.3:n.*1833A>G | |
| NM_024529.4:c.*1833A>G , LRG_507t1:c.*1833A>G | NP_078805.3:n.*1833A>G | |
| NM_024529.5:c.*1833A>G MANE Select | NP_078805.3:n.*1833A>G |