Linked Data
ClinVar Variation Id:
1626465
ClinVar RCV Id:
RCV002110744
dbSNP Id:
rs2131026686
MyVariant Identifiers:
chr9:g.35057513A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35057516A>G , CM000671.2:g.35057516A>G | GRCh38 |
| NC_000009.11:g.35057513A>G , CM000671.1:g.35057513A>G | GRCh37 |
| NC_000009.10:g.35047513A>G | NCBI36 |
| NG_007887.1:g.20227T>C , LRG_657:g.20227T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.2175T>C MANE Select | ENSP00000351777.6:p.Asp725= | |
| ENST00000417448.2:c.2040T>C | ENSP00000399456.2:p.Asp680= | |
| ENST00000448530.6:c.2040T>C | ENSP00000392088.2:p.Asp680= | |
| ENST00000479300.2:n.703T>C | ||
| ENST00000676836.2:n.2918T>C | ||
| ENST00000677257.1:c.2169T>C | ENSP00000504354.1:p.Asp723= | |
| ENST00000678018.1:c.*2146T>C | ENSP00000503811.1:n.*2146T>C | |
| ENST00000678465.1:c.*1187T>C | ENSP00000504259.1:n.*1187T>C | |
| ENST00000678650.1:c.2040T>C | ENSP00000503426.1:p.Asp680= | |
| ENST00000679204.2:c.*816T>C | ENSP00000503131.2:n.*816T>C | |
| ENST00000679599.1:n.4764T>C | ||
| ENST00000679647.1:c.2084-421T>C | ENSP00000506216.1:n.2084-421T>C | |
| ENST00000679800.1:n.2574T>C | ||
| ENST00000679862.1:c.2037T>C | ENSP00000504990.1:p.Asp679= | |
| ENST00000679902.1:c.2175T>C | ENSP00000506338.1:p.Asp725= | |
| ENST00000680916.1:c.*140T>C | ENSP00000505769.1:n.*140T>C | |
| ENST00000681335.1:c.2019T>C | ENSP00000505230.1:p.Asp673= | |
| ENST00000681537.1:c.15T>C | ENSP00000505847.1:p.Asp5= | |
| ENST00000681690.1:n.3980T>C | ||
| ENST00000358901.10:c.2175T>C | ENSP00000351777.6:p.Asp725= | |
| ENST00000466100.1:n.318T>C | ||
| ENST00000493886.5:n.2449T>C | ||
| NM_007126.3:c.2175T>C , LRG_657t1:c.2175T>C | NP_009057.1:p.Asp725= | |
| NM_001354927.1:c.2040T>C | NP_001341856.1:p.Asp680= | |
| NM_001354928.1:c.2040T>C | NP_001341857.1:p.Asp680= | |
| NM_007126.4:c.2175T>C | NP_009057.1:p.Asp725= | |
| NM_007126.5:c.2175T>C MANE Select | NP_009057.1:p.Asp725= | |
| NM_001354927.2:c.2040T>C | NP_001341856.1:p.Asp680= | |
| NM_001354928.2:c.2040T>C | NP_001341857.1:p.Asp680= |