Linked Data
ClinVar Variation Id:
207865
ClinVar RCV Id:
RCV000190154
dbSNP Id:
rs796052161
PubMed:
PMID:26132555
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.119697755G>T , CM000674.2:g.119697755G>T | GRCh38 |
| NC_000012.11:g.120135560G>T , CM000674.1:g.120135560G>T | GRCh37 |
| NC_000012.10:g.118619943G>T | NCBI36 |
| NG_029792.1:g.184536C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392521.7:c.5786C>A MANE Select | ENSP00000376306.2:p.Ser1929Tyr | |
| ENST00000545913.6:n.7949C>A | ||
| ENST00000676693.1:n.3112C>A | ||
| ENST00000676833.1:n.5146C>A | ||
| ENST00000676849.1:c.4403C>A | ENSP00000503214.1:p.Ser1468Tyr | |
| ENST00000677438.1:c.*4892C>A | ENSP00000504095.1:n.*4892C>A | |
| ENST00000677738.1:n.2983C>A | ||
| ENST00000677742.1:n.1096C>A | ||
| ENST00000677812.1:c.*5006C>A | ENSP00000504400.1:n.*5006C>A | |
| ENST00000677849.1:c.*4892C>A | ENSP00000503820.1:n.*4892C>A | |
| ENST00000677993.1:c.4391C>A | ENSP00000503765.1:p.Ser1464Tyr | |
| ENST00000678087.1:c.4277C>A | ENSP00000503863.1:p.Ser1426Tyr | |
| ENST00000678236.1:n.7246C>A | ||
| ENST00000678494.1:c.1227-10721C>A | ENSP00000503854.1:n.1227-10721C>A | |
| ENST00000678652.1:c.4403C>A | ENSP00000504849.1:p.Ser1468Tyr | |
| ENST00000678677.1:c.4190C>A | ENSP00000503253.1:p.Ser1397Tyr | |
| ENST00000679120.1:c.*3793C>A | ENSP00000502891.1:n.*3793C>A | |
| ENST00000679249.1:c.4403C>A | ENSP00000503976.1:p.Ser1468Tyr | |
| ENST00000679285.1:n.3282C>A | ||
| ENST00000261833.11:c.5660C>A | ENSP00000261833.7:p.Ser1887Tyr | |
| ENST00000392520.2:c.4498C>A | ||
| ENST00000392521.6:c.5786C>A | ENSP00000376306.2:p.Ser1929Tyr | |
| ENST00000469414.1:n.294C>A | ||
| ENST00000537607.5:n.4513C>A | ||
| ENST00000544872.1:n.355C>A | ||
| ENST00000545913.5:n.5657C>A | ||
| ENST00000612548.4:c.1442-9691C>A | ENSP00000482318.1:n.1442-9691C>A | |
| NM_001206999.1:c.5786C>A | NP_001193928.1:p.Ser1929Tyr | |
| NM_007174.2:c.5660C>A | NP_009105.1:p.Ser1887Tyr | |
| XM_006719206.2:c.5741C>A | XP_006719269.1:p.Ser1914Tyr | |
| XM_011537783.1:c.5831C>A | XP_011536085.1:p.Ser1944Tyr | |
| XM_011537784.1:c.5831C>A | XP_011536086.1:p.Ser1944Tyr | |
| XM_011537785.1:c.5786C>A | XP_011536087.1:p.Ser1929Tyr | |
| XM_011537786.1:c.5705C>A | XP_011536088.1:p.Ser1902Tyr | |
| XM_011537787.1:c.5615C>A | XP_011536089.1:p.Ser1872Tyr | |
| XM_011537788.1:c.5615C>A | XP_011536090.1:p.Ser1872Tyr | |
| XM_011537789.1:c.4493C>A | XP_011536091.1:p.Ser1498Tyr | |
| XM_011537790.1:c.4493C>A | XP_011536092.1:p.Ser1498Tyr | |
| XM_011537791.1:c.4433C>A | XP_011536093.1:p.Ser1478Tyr | |
| XM_011537792.1:c.4217C>A | XP_011536094.1:p.Ser1406Tyr | |
| XM_011537790.2:c.4493C>A | XP_011536092.1:p.Ser1498Tyr | |
| XM_011537791.2:c.4433C>A | XP_011536093.1:p.Ser1478Tyr | |
| XM_011537792.2:c.4217C>A | XP_011536094.1:p.Ser1406Tyr | |
| XM_017018735.1:c.5786C>A | XP_016874224.1:p.Ser1929Tyr | |
| XM_017018736.1:c.5786C>A | XP_016874225.1:p.Ser1929Tyr | |
| XM_017018737.1:c.5741C>A | XP_016874226.1:p.Ser1914Tyr | |
| XM_017018738.1:c.4307C>A | XP_016874227.1:p.Ser1436Tyr | |
| XM_017018739.1:c.4217C>A | XP_016874228.1:p.Ser1406Tyr | |
| NM_001206999.2:c.5786C>A MANE Select | NP_001193928.1:p.Ser1929Tyr | |
| NM_007174.3:c.5660C>A | NP_009105.1:p.Ser1887Tyr |