Linked Data
ClinVar Variation Id:
91630
dbSNP Id:
rs398122686
gnomAD v3:
17-43076555-A-G
gnomAD v4:
17-43076555-A-G
PubMed:
PMID:23613828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076555A>G , CM000679.2:g.43076555A>G | GRCh38 |
| NC_000017.10:g.41228572A>G , CM000679.1:g.41228572A>G | GRCh37 |
| NC_000017.9:g.38482098A>G | NCBI36 |
| NG_005905.2:g.141429T>C , LRG_292:g.141429T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4414T>C | ENSP00000417241.2:p.Ser1472Pro | |
| ENST00000470026.6:c.4417T>C | ENSP00000419274.2:p.Ser1473Pro | |
| ENST00000473961.6:c.4291T>C | ENSP00000420201.2:p.Ser1431Pro | |
| ENST00000476777.6:c.4411T>C | ENSP00000417554.2:p.Ser1471Pro | |
| ENST00000477152.6:c.4339T>C | ENSP00000419988.2:p.Ser1447Pro | |
| ENST00000478531.6:c.1105T>C | ENSP00000420412.2:p.Ser369Pro | |
| ENST00000489037.2:c.4339T>C | ENSP00000420781.2:p.Ser1447Pro | |
| ENST00000493919.6:c.967T>C | ENSP00000418819.2:p.Ser323Pro | |
| ENST00000494123.6:c.4417T>C | ENSP00000419103.2:p.Ser1473Pro | |
| ENST00000497488.2:c.3529T>C | ENSP00000418986.2:p.Ser1177Pro | |
| ENST00000618469.2:c.4417T>C | ENSP00000478114.2:p.Ser1473Pro | |
| ENST00000634433.2:c.4294T>C | ENSP00000489431.2:p.Ser1432Pro | |
| ENST00000644379.2:c.4483T>C | ENSP00000496570.2:p.Ser1495Pro | |
| ENST00000644555.2:c.967T>C | ENSP00000494614.2:p.Ser323Pro | |
| ENST00000652672.2:c.4276T>C | ENSP00000498906.2:p.Ser1426Pro | |
| ENST00000484087.6:c.979T>C | ENSP00000419481.2:p.Ser327Pro | |
| ENST00000700182.1:c.1024T>C | ENSP00000514849.1:p.Ser342Pro | |
| ENST00000357654.9:c.4417T>C MANE Select | ENSP00000350283.3:p.Ser1473Pro | |
| ENST00000471181.7:c.4480T>C | ENSP00000418960.2:p.Ser1494Pro | |
| ENST00000644379.1:c.804T>C | ||
| ENST00000352993.7:c.991T>C | ENSP00000312236.5:p.Ser331Pro | |
| ENST00000357654.7:c.4417T>C | ENSP00000350283.3:p.Ser1473Pro | |
| ENST00000461221.5:c.*4200T>C | ENSP00000418548.1:n.*4200T>C | |
| ENST00000461574.1:c.708T>C | ||
| ENST00000468300.5:c.1105T>C | ENSP00000417148.1:p.Ser369Pro | |
| ENST00000471181.6:c.4480T>C | ENSP00000418960.2:p.Ser1494Pro | |
| ENST00000478531.5:c.1105T>C | ENSP00000420412.1:p.Ser369Pro | |
| ENST00000484087.5:c.730T>C | ENSP00000419481.1:p.Ser244Pro | |
| ENST00000487825.5:c.733T>C | ENSP00000418212.1:p.Ser245Pro | |
| ENST00000491747.6:c.1105T>C | ENSP00000420705.2:p.Ser369Pro | |
| ENST00000493795.5:c.4276T>C | ENSP00000418775.1:p.Ser1426Pro | |
| ENST00000493919.5:c.967T>C | ENSP00000418819.1:p.Ser323Pro | |
| ENST00000586385.5:c.5-12604T>C | ENSP00000465818.1:n.5-12604T>C | |
| ENST00000591534.5:c.-43-2034T>C | ENSP00000467329.1:n.-43-2034T>C | |
| ENST00000591849.5:c.-98-26365T>C | ENSP00000465347.1:n.-98-26365T>C | |
| ENST00000621897.1:n.308T>C | ||
| NM_007294.3:c.4417T>C , LRG_292t1:c.4417T>C | NP_009225.1:p.Ser1473Pro | |
| NM_007297.3:c.4276T>C | NP_009228.2:p.Ser1426Pro | |
| NM_007298.3:c.1105T>C | NP_009229.2:p.Ser369Pro | |
| NM_007299.3:c.1105T>C | NP_009230.2:p.Ser369Pro | |
| NM_007300.3:c.4480T>C | NP_009231.2:p.Ser1494Pro | |
| NR_027676.1:n.4553T>C | ||
| NM_007294.4:c.4417T>C MANE Select | NP_009225.1:p.Ser1473Pro | |
| NM_007297.4:c.4276T>C | NP_009228.2:p.Ser1426Pro | |
| NM_007299.4:c.1105T>C | NP_009230.2:p.Ser369Pro | |
| NM_007300.4:c.4480T>C | NP_009231.2:p.Ser1494Pro | |
| NR_027676.2:n.4594T>C |