Linked Data
ClinVar Variation Id:
542346
dbSNP Id:
rs199528062
ExAC:
12:56740266 G / C
gnomAD v2:
12-56740266-G-C
gnomAD v3:
12-56346482-G-C
gnomAD v4:
12-56346482-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56346482G>C , CM000674.2:g.56346482G>C | GRCh38 |
| NC_000012.11:g.56740266G>C , CM000674.1:g.56740266G>C | GRCh37 |
| NC_000012.10:g.55026533G>C | NCBI36 |
| NG_046314.1:g.18772C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555488.2:n.1594C>G | ||
| ENST00000698178.1:n.2595C>G | ||
| ENST00000698179.1:n.2547C>G | ||
| ENST00000698180.1:c.*1759C>G | ENSP00000513597.1:n.*1759C>G | |
| ENST00000698181.1:n.3041C>G | ||
| ENST00000698182.1:n.2814C>G | ||
| ENST00000698183.1:n.3274C>G | ||
| ENST00000698184.1:n.3048C>G | ||
| ENST00000698185.1:n.3207C>G | ||
| ENST00000698186.1:c.1872C>G | ENSP00000513598.1:p.Ile624Met | |
| ENST00000698187.1:n.2330C>G | ||
| ENST00000698188.1:n.2671C>G | ||
| ENST00000698189.1:n.3788C>G | ||
| ENST00000698190.1:n.2662C>G | ||
| ENST00000698191.1:n.2595C>G | ||
| ENST00000698192.1:c.2004C>G | ENSP00000513599.1:p.Ile668Met | |
| ENST00000698193.1:c.2004C>G | ENSP00000513600.1:p.Ile668Met | |
| ENST00000314128.9:c.2004C>G MANE Select | ENSP00000315768.4:p.Ile668Met | |
| ENST00000556140.6:n.2776C>G | ||
| ENST00000650805.1:c.*1438C>G | ENSP00000498710.1:n.*1438C>G | |
| ENST00000651078.1:n.2657C>G | ||
| ENST00000651301.1:c.*1678C>G | ENSP00000498470.1:n.*1678C>G | |
| ENST00000651339.1:n.739C>G | ||
| ENST00000651805.1:n.2393C>G | ||
| ENST00000651915.1:c.1905C>G | ENSP00000498876.1:p.Ile635Met | |
| ENST00000651934.1:n.2444C>G | ||
| ENST00000651967.1:n.2119C>G | ||
| ENST00000652091.1:n.2522C>G | ||
| ENST00000652398.1:c.*1570C>G | ENSP00000499022.1:n.*1570C>G | |
| ENST00000652624.1:c.*1130C>G | ENSP00000499108.1:n.*1130C>G | |
| ENST00000652741.1:c.*1759C>G | ENSP00000498704.1:n.*1759C>G | |
| ENST00000314128.8:c.2004C>G | ENSP00000315768.4:p.Ile668Met | |
| ENST00000555488.1:n.387C>G | ||
| ENST00000556539.5:n.934C>G | ||
| ENST00000557235.5:c.1992C>G | ENSP00000450751.1:p.Ile664Met | |
| NM_005419.3:c.2004C>G | NP_005410.1:p.Ile668Met | |
| NM_198332.1:c.1992C>G | NP_938146.1:p.Ile664Met | |
| XM_011538697.1:c.2028C>G | XP_011536999.1:p.Ile676Met | |
| XM_011538698.1:c.2016C>G | XP_011537000.1:p.Ile672Met | |
| XM_011538700.1:c.1296C>G | XP_011537002.1:p.Ile432Met | |
| XM_011538701.1:c.1059C>G | XP_011537003.1:p.Ile353Met | |
| XM_011538697.2:c.2028C>G | XP_011536999.1:p.Ile676Met | |
| XM_011538698.3:c.2016C>G | XP_011537000.1:p.Ile672Met | |
| XM_011538700.2:c.1296C>G | XP_011537002.1:p.Ile432Met | |
| XM_017019904.2:c.1272C>G | XP_016875393.1:p.Ile424Met | |
| XR_001748856.1:n.1927C>G | ||
| XR_001748857.1:n.2008C>G | ||
| XR_001748858.2:n.1885C>G | ||
| XR_002957375.1:n.2299C>G | ||
| XR_002957376.1:n.2257C>G | ||
| NM_005419.4:c.2004C>G MANE Select | NP_005410.1:p.Ile668Met | |
| NM_198332.2:c.1992C>G | NP_938146.1:p.Ile664Met | |
| NM_001385110.1:c.1971C>G | NP_001372039.1:p.Ile657Met | |
| NM_001385111.1:c.1905C>G | NP_001372040.1:p.Ile635Met | |
| NM_001385113.1:c.2004C>G | NP_001372042.1:p.Ile668Met | |
| NM_001385114.1:c.1983C>G | NP_001372043.1:p.Ile661Met | |
| NM_001385115.1:c.1962C>G | NP_001372044.1:p.Ile654Met |