Linked Data
ClinVar Variation Id:
366708
dbSNP Id:
rs137953487
gnomAD v2:
9-35056676-T-C
gnomAD v3:
9-35056679-T-C
gnomAD v4:
9-35056679-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35056679T>C , CM000671.2:g.35056679T>C | GRCh38 |
| NC_000009.11:g.35056676T>C , CM000671.1:g.35056676T>C | GRCh37 |
| NC_000009.10:g.35046676T>C | NCBI36 |
| NG_007887.1:g.21064A>G , LRG_657:g.21064A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.*438A>G MANE Select | ENSP00000351777.6:n.*438A>G | |
| ENST00000417448.2:c.*438A>G | ENSP00000399456.2:n.*438A>G | |
| ENST00000448530.6:c.*438A>G | ENSP00000392088.2:n.*438A>G | |
| ENST00000677257.1:c.*438A>G | ENSP00000504354.1:n.*438A>G | |
| ENST00000678018.1:c.*2830A>G | ENSP00000503811.1:n.*2830A>G | |
| ENST00000678465.1:c.*1871A>G | ENSP00000504259.1:n.*1871A>G | |
| ENST00000678650.1:c.*438A>G | ENSP00000503426.1:n.*438A>G | |
| ENST00000679204.2:c.*1500A>G | ENSP00000503131.2:n.*1500A>G | |
| ENST00000679599.1:n.5448A>G | ||
| ENST00000679647.1:c.*298A>G | ENSP00000506216.1:n.*298A>G | |
| ENST00000679800.1:n.3258A>G | ||
| ENST00000679862.1:c.*438A>G | ENSP00000504990.1:n.*438A>G | |
| ENST00000679902.1:c.*693A>G | ENSP00000506338.1:n.*693A>G | |
| ENST00000680916.1:c.*824A>G | ENSP00000505769.1:n.*824A>G | |
| ENST00000681335.1:c.*438A>G | ENSP00000505230.1:n.*438A>G | |
| ENST00000681537.1:c.688A>G | ENSP00000505847.1:n.688A>G | |
| ENST00000681690.1:n.4664A>G | ||
| ENST00000358901.10:c.*438A>G | ENSP00000351777.6:n.*438A>G | |
| NM_007126.3:c.*438A>G , LRG_657t1:c.*438A>G | NP_009057.1:n.*438A>G | |
| NM_001354927.1:c.*438A>G | NP_001341856.1:n.*438A>G | |
| NM_001354928.1:c.*438A>G | NP_001341857.1:n.*438A>G | |
| NM_007126.4:c.*438A>G | NP_009057.1:n.*438A>G | |
| NM_007126.5:c.*438A>G MANE Select | NP_009057.1:n.*438A>G | |
| NM_001354927.2:c.*438A>G | NP_001341856.1:n.*438A>G | |
| NM_001354928.2:c.*438A>G | NP_001341857.1:n.*438A>G |