Linked Data
ClinVar Variation Id:
2017821
ClinVar RCV Id:
RCV002857053
dbSNP Id:
rs1563975034
MyVariant Identifiers:
chr9:g.35057150T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35057153T>C , CM000671.2:g.35057153T>C | GRCh38 |
| NC_000009.11:g.35057150T>C , CM000671.1:g.35057150T>C | GRCh37 |
| NC_000009.10:g.35047150T>C | NCBI36 |
| NG_007887.1:g.20590A>G , LRG_657:g.20590A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.2385A>G MANE Select | ENSP00000351777.6:p.Val795= | |
| ENST00000417448.2:c.2250A>G | ENSP00000399456.2:p.Val750= | |
| ENST00000448530.6:c.2250A>G | ENSP00000392088.2:p.Val750= | |
| ENST00000479300.2:n.913A>G | ||
| ENST00000676836.2:n.3128A>G | ||
| ENST00000677257.1:c.2379A>G | ENSP00000504354.1:p.Val793= | |
| ENST00000678018.1:c.*2356A>G | ENSP00000503811.1:n.*2356A>G | |
| ENST00000678465.1:c.*1397A>G | ENSP00000504259.1:n.*1397A>G | |
| ENST00000678650.1:c.2250A>G | ENSP00000503426.1:p.Val750= | |
| ENST00000679204.2:c.*1026A>G | ENSP00000503131.2:n.*1026A>G | |
| ENST00000679599.1:n.4974A>G | ||
| ENST00000679647.1:c.2084-58A>G | ENSP00000506216.1:n.2084-58A>G | |
| ENST00000679800.1:n.2784A>G | ||
| ENST00000679862.1:c.2247A>G | ENSP00000504990.1:p.Val749= | |
| ENST00000679902.1:c.*219A>G | ENSP00000506338.1:n.*219A>G | |
| ENST00000680916.1:c.*350A>G | ENSP00000505769.1:n.*350A>G | |
| ENST00000681335.1:c.2229A>G | ENSP00000505230.1:p.Val743= | |
| ENST00000681537.1:c.214A>G | ENSP00000505847.1:p.Ile72Val | |
| ENST00000681690.1:n.4190A>G | ||
| ENST00000358901.10:c.2385A>G | ENSP00000351777.6:p.Val795= | |
| ENST00000493886.5:n.2659A>G | ||
| NM_007126.3:c.2385A>G , LRG_657t1:c.2385A>G | NP_009057.1:p.Val795= | |
| NM_001354927.1:c.2250A>G | NP_001341856.1:p.Val750= | |
| NM_001354928.1:c.2250A>G | NP_001341857.1:p.Val750= | |
| NM_007126.4:c.2385A>G | NP_009057.1:p.Val795= | |
| NM_007126.5:c.2385A>G MANE Select | NP_009057.1:p.Val795= | |
| NM_001354927.2:c.2250A>G | NP_001341856.1:p.Val750= | |
| NM_001354928.2:c.2250A>G | NP_001341857.1:p.Val750= |