Linked Data
ClinVar Variation Id:
183012
ClinVar RCV Id:
RCV000161135
RCV000324288
RCV001082780
RCV001252740
RCV001272920
RCV001797645
RCV002467638
dbSNP Id:
rs199910690
ExAC:
17:56283519 C / T
gnomAD v2:
17-56283519-C-T
gnomAD v3:
17-58206158-C-T
gnomAD v4:
17-58206158-C-T
PubMed:
PMID:24608809
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58206158C>T , CM000679.2:g.58206158C>T | GRCh38 |
| NC_000017.10:g.56283519C>T , CM000679.1:g.56283519C>T | GRCh37 |
| NC_000017.9:g.53638518C>T | NCBI36 |
| NG_013020.1:g.18431C>T | |
| NG_013032.1:g.18448G>A , LRG_687:g.18448G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.*13G>A | ENSP00000316631.6:n.*13G>A | |
| ENST00000393119.7:c.1601G>A MANE Select | ENSP00000376827.2:p.Arg534Gln | |
| ENST00000537529.7:c.1172G>A | ENSP00000442096.3:p.Arg391Gln | |
| ENST00000675753.2:c.*1220G>A | ENSP00000502156.1:n.*1220G>A | |
| ENST00000676787.1:c.1472G>A | ENSP00000503999.1:p.Arg491Gln | |
| ENST00000677111.1:c.*1075G>A | ENSP00000504282.1:n.*1075G>A | |
| ENST00000677160.1:n.2875G>A | ||
| ENST00000677416.1:n.2922G>A | ||
| ENST00000677486.1:c.*945G>A | ENSP00000503852.1:n.*945G>A | |
| ENST00000677709.1:n.2301G>A | ||
| ENST00000678011.1:n.2501G>A | ||
| ENST00000678432.1:c.*1375G>A | ENSP00000504452.1:n.*1375G>A | |
| ENST00000678463.1:c.1518G>A | ENSP00000502984.1:p.Ser506= | |
| ENST00000678568.1:c.*925G>A | ENSP00000504754.1:n.*925G>A | |
| ENST00000678641.1:c.*945G>A | ENSP00000503159.1:n.*945G>A | |
| ENST00000678763.1:n.1916G>A | ||
| ENST00000313863.10:c.*13G>A | ENSP00000316631.6:n.*13G>A | |
| ENST00000393119.6:c.1601G>A | ENSP00000376827.2:p.Arg534Gln | |
| ENST00000393120.6:c.*1008G>A | ENSP00000376828.2:n.*1008G>A | |
| ENST00000537529.6:c.1571G>A | ENSP00000442096.2:p.Arg524Gln | |
| ENST00000583577.1:n.427G>A | ||
| NM_001165927.1:c.1571G>A , LRG_687t2:c.1571G>A | NP_001159399.1:p.Arg524Gln | |
| NM_017777.3:c.1601G>A , LRG_687t1:c.1601G>A | NP_060247.2:p.Arg534Gln | |
| XM_005257483.3:c.1518G>A | XP_005257540.1:p.Ser506= | |
| XM_005257485.3:c.1089G>A | XP_005257542.1:p.Ser363= | |
| XM_005257486.3:c.992G>A | XP_005257543.1:p.Arg331Gln | |
| XM_006721965.2:c.909G>A | XP_006722028.1:p.Ser303= | |
| XM_011524957.1:c.1527G>A | XP_011523259.1:p.Ser509= | |
| XM_011524958.1:c.1610G>A | XP_011523260.1:p.Arg537Gln | |
| XM_011524959.1:c.*13G>A | XP_011523261.1:n.*13G>A | |
| NM_001321268.1:c.992G>A | NP_001308197.1:p.Arg331Gln | |
| NM_001321269.1:c.1518G>A | NP_001308198.1:p.Ser506= | |
| NM_001330397.1:c.*13G>A | NP_001317326.1:n.*13G>A | |
| XM_005257485.4:c.1089G>A | XP_005257542.1:p.Ser363= | |
| XM_006721965.3:c.909G>A | XP_006722028.1:p.Ser303= | |
| XM_011524957.2:c.1527G>A | XP_011523259.1:p.Ser509= | |
| XM_011524958.2:c.1610G>A | XP_011523260.1:p.Arg537Gln | |
| XM_011524959.2:c.*13G>A | XP_011523261.1:n.*13G>A | |
| XM_017024805.1:c.1172G>A | XP_016880294.1:p.Arg391Gln | |
| XR_002958042.1:n.1529G>A | ||
| NM_001321268.2:c.992G>A | NP_001308197.1:p.Arg331Gln | |
| NM_001321269.2:c.1518G>A | NP_001308198.1:p.Ser506= | |
| NM_001330397.2:c.*13G>A | NP_001317326.1:n.*13G>A | |
| NM_017777.4:c.1601G>A MANE Select | NP_060247.2:p.Arg534Gln |