Linked Data
ClinVar Variation Id:
417227
ClinVar RCV Id:
RCV000475603
RCV000825118
RCV001164394
RCV001159453
RCV001468343
RCV002431383
RCV003932773
dbSNP Id:
rs142592480
ExAC:
7:140434502 G / C
gnomAD v2:
7-140434502-G-C
gnomAD v3:
7-140734702-G-C
gnomAD v4:
7-140734702-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140734702G>C , CM000669.2:g.140734702G>C | GRCh38 |
| NC_000007.13:g.140434502G>C , CM000669.1:g.140434502G>C | GRCh37 |
| NC_000007.12:g.140080971G>C | NCBI36 |
| NG_007873.3:g.195063C>G , LRG_299:g.195063C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.2196C>G MANE Select | ENSP00000493543.1:p.Ser732= | |
| ENST00000288602.11:c.2316C>G | ENSP00000288602.7:p.Ser772= | |
| ENST00000479537.6:c.948C>G | ||
| ENST00000496384.7:c.2196C>G | ENSP00000419060.2:p.Ser732= | |
| ENST00000497784.2:c.*1646C>G | ENSP00000420119.2:n.*1646C>G | |
| ENST00000642228.1:c.*1274C>G | ENSP00000493678.1:n.*1274C>G | |
| ENST00000642875.1:n.1594C>G | ||
| ENST00000644120.1:n.2517+5110C>G | ||
| ENST00000644650.1:c.1495C>G | ||
| ENST00000644905.1:n.3078C>G | ||
| ENST00000644969.2:c.2316C>G MANE Plus Clinical | ENSP00000496776.1:p.Ser772= | |
| ENST00000645443.1:n.1975C>G | ||
| ENST00000646730.1:c.*854C>G | ENSP00000494784.1:n.*854C>G | |
| ENST00000646891.1:c.2196C>G | ENSP00000493543.1:p.Ser732= | |
| ENST00000647434.1:c.1073C>G | ENSP00000495132.1:n.1073C>G | |
| ENST00000288602.10:c.2196C>G | ENSP00000288602.6:p.Ser732= | |
| ENST00000479537.5:c.562C>G | ENSP00000418033.1:n.562C>G | |
| ENST00000496384.6:c.1019C>G | ||
| ENST00000497784.1:c.2231C>G | ENSP00000420119.1:n.2231C>G | |
| NM_004333.4:c.2196C>G , LRG_299t1:c.2196C>G | NP_004324.2:p.Ser732= | |
| XM_005250045.1:c.2196C>G | XP_005250102.1:p.Ser732= | |
| XM_005250046.1:c.2127+5110C>G | XP_005250103.1:n.2127+5110C>G | |
| XM_011516529.1:c.2127+5110C>G | XP_011514831.1:n.2127+5110C>G | |
| XR_242190.1:n.2286C>G | ||
| XR_927520.1:n.2325C>G | ||
| XR_927521.1:n.2407C>G | ||
| XR_927522.1:n.2038C>G | ||
| XR_927523.1:n.2120C>G | ||
| NM_001354609.1:c.2196C>G | NP_001341538.1:p.Ser732= | |
| NM_004333.5:c.2196C>G | NP_004324.2:p.Ser732= | |
| NR_148928.1:n.3294C>G | ||
| XM_017012558.1:c.2316C>G | XP_016868047.1:p.Ser772= | |
| XM_017012559.1:c.2247+5110C>G | XP_016868048.1:n.2247+5110C>G | |
| XR_001744857.1:n.2406C>G | ||
| XR_001744858.1:n.2158C>G | ||
| NM_001354609.2:c.2196C>G | NP_001341538.1:p.Ser732= | |
| NM_001374244.1:c.2316C>G | NP_001361173.1:p.Ser772= | |
| NM_001374258.1:c.2316C>G MANE Plus Clinical | NP_001361187.1:p.Ser772= | |
| NM_004333.6:c.2196C>G MANE Select | NP_004324.2:p.Ser732= | |
| NM_001378467.1:c.2205C>G | NP_001365396.1:p.Ser735= | |
| NM_001378468.1:c.2127+5110C>G | NP_001365397.1:n.2127+5110C>G | |
| NM_001378469.1:c.2130C>G | NP_001365398.1:p.Ser710= | |
| NM_001378470.1:c.2094C>G | NP_001365399.1:p.Ser698= | |
| NM_001378471.1:c.2085C>G | NP_001365400.1:p.Ser695= | |
| NM_001378472.1:c.2040C>G | NP_001365401.1:p.Ser680= | |
| NM_001378473.1:c.2040C>G | NP_001365402.1:p.Ser680= | |
| NM_001378474.1:c.2127+5110C>G | NP_001365403.1:n.2127+5110C>G | |
| NM_001378475.1:c.1932C>G | NP_001365404.1:p.Ser644= |