Linked Data
ClinVar Variation Id:
64649
ClinVar RCV Id:
RCV000054819
dbSNP Id:
rs587777027
gnomAD v4:
20-45419348-A-C
PubMed:
PMID:23636107
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45419348A>C , CM000682.2:g.45419348A>C | GRCh38 |
| NC_000020.10:g.44047988A>C , CM000682.1:g.44047988A>C | GRCh37 |
| NC_000020.9:g.43481402A>C | NCBI36 |
| NG_047154.1:g.8282A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424705.3:c.547A>C | ENSP00000491856.2:p.Thr183Pro | |
| ENST00000638691.2:c.547A>C | ENSP00000492094.2:p.Thr183Pro | |
| ENST00000639292.2:c.547A>C | ENSP00000491678.2:p.Thr183Pro | |
| ENST00000640549.2:c.547A>C | ENSP00000492043.2:p.Thr183Pro | |
| ENST00000689203.1:c.547A>C | ENSP00000508682.1:p.Thr183Pro | |
| ENST00000692236.1:c.547A>C | ENSP00000509421.1:p.Thr183Pro | |
| ENST00000279035.14:c.241A>C | ENSP00000279035.8:p.Thr81Pro | |
| ENST00000279036.12:c.547A>C MANE Select | ENSP00000279036.6:p.Thr183Pro | |
| ENST00000432270.2:c.241A>C | ENSP00000408354.2:p.Thr81Pro | |
| ENST00000543458.7:c.379A>C | ENSP00000441577.1:p.Thr127Pro | |
| ENST00000545755.3:c.188-984A>C | ENSP00000443963.3:n.188-984A>C | |
| ENST00000638246.1:c.*47A>C | ENSP00000492883.1:n.*47A>C | |
| ENST00000638353.1:c.316-156A>C | ENSP00000491538.1:n.316-156A>C | |
| ENST00000638383.1:c.547A>C | ENSP00000492295.1:p.Thr183Pro | |
| ENST00000638387.1:c.547A>C | ENSP00000492873.1:p.Thr183Pro | |
| ENST00000638415.1:c.84A>C | ||
| ENST00000638445.1:c.507A>C | ENSP00000491297.1:p.Ala169= | |
| ENST00000638478.1:c.494-160A>C | ENSP00000491233.1:n.494-160A>C | |
| ENST00000638489.1:c.517A>C | ENSP00000491566.1:p.Thr173Pro | |
| ENST00000638537.1:n.336A>C | ||
| ENST00000638594.1:c.547A>C | ENSP00000491697.1:p.Thr183Pro | |
| ENST00000638612.1:c.547A>C | ENSP00000491458.1:p.Thr183Pro | |
| ENST00000638671.1:c.369A>C | ENSP00000492875.1:p.Ala123= | |
| ENST00000638689.1:n.2734A>C | ||
| ENST00000638710.1:c.753A>C | ENSP00000491406.1:n.753A>C | |
| ENST00000638714.1:c.366-156A>C | ENSP00000491194.1:n.366-156A>C | |
| ENST00000638745.1:c.369A>C | ENSP00000491744.1:p.Ala123= | |
| ENST00000638938.1:c.*204A>C | ENSP00000491171.1:n.*204A>C | |
| ENST00000638953.1:c.*204A>C | ENSP00000492848.1:n.*204A>C | |
| ENST00000638962.1:n.507A>C | ||
| ENST00000638978.1:c.547A>C | ENSP00000492743.1:p.Thr183Pro | |
| ENST00000639194.1:c.293A>C | ENSP00000492210.1:n.293A>C | |
| ENST00000639235.1:c.436A>C | ENSP00000492498.1:p.Thr146Pro | |
| ENST00000639250.1:n.1108A>C | ||
| ENST00000639286.1:c.241A>C | ENSP00000492507.1:p.Thr81Pro | |
| ENST00000639292.1:c.326A>C | ||
| ENST00000639382.1:c.454-156A>C | ENSP00000491534.1:n.454-156A>C | |
| ENST00000639417.1:c.366-984A>C | ENSP00000491058.1:n.366-984A>C | |
| ENST00000639499.1:c.547A>C | ENSP00000491170.1:p.Thr183Pro | |
| ENST00000639664.1:n.274A>C | ||
| ENST00000639783.1:c.494-156A>C | ENSP00000491772.1:n.494-156A>C | |
| ENST00000639932.1:c.547A>C | ENSP00000491600.1:p.Thr183Pro | |
| ENST00000639984.1:c.369A>C | ENSP00000492727.1:p.Ala123= | |
| ENST00000640107.1:c.547A>C | ENSP00000491118.1:p.Thr183Pro | |
| ENST00000640108.1:c.*236A>C | ENSP00000492007.1:n.*236A>C | |
| ENST00000640175.1:c.188-156A>C | ENSP00000492418.1:n.188-156A>C | |
| ENST00000640194.1:c.*47A>C | ENSP00000492279.1:n.*47A>C | |
| ENST00000640210.1:c.188-160A>C | ENSP00000491164.1:n.188-160A>C | |
| ENST00000640272.1:c.547A>C | ENSP00000492270.1:p.Thr183Pro | |
| ENST00000640324.1:c.553A>C | ENSP00000491074.1:p.Thr185Pro | |
| ENST00000640364.1:n.581A>C | ||
| ENST00000640542.1:c.547A>C | ENSP00000492174.1:p.Thr183Pro | |
| ENST00000640549.1:c.37A>C | ENSP00000492043.1:p.Thr13Pro | |
| ENST00000640585.1:c.*204A>C | ENSP00000491308.1:n.*204A>C | |
| ENST00000640666.1:c.547A>C | ENSP00000491072.1:p.Thr183Pro | |
| ENST00000640692.1:c.547A>C | ENSP00000492370.1:p.Thr183Pro | |
| ENST00000640940.1:n.209A>C | ||
| ENST00000640986.1:c.547A>C | ENSP00000491886.1:p.Thr183Pro | |
| ENST00000640996.1:c.*204A>C | ENSP00000492464.1:n.*204A>C | |
| ENST00000279035.13:c.241A>C | ENSP00000279035.8:p.Thr81Pro | |
| ENST00000279036.10:c.547A>C | ENSP00000279036.6:p.Thr183Pro | |
| ENST00000372689.9:c.547A>C | ENSP00000361774.4:p.Thr183Pro | |
| ENST00000432270.1:c.162-984A>C | ||
| ENST00000455050.2:c.*47A>C | ENSP00000407574.2:n.*47A>C | |
| ENST00000543458.6:c.379A>C | ENSP00000441577.1:p.Thr127Pro | |
| NM_001184728.2:c.379A>C | NP_001171657.1:p.Thr127Pro | |
| NM_001184729.2:c.547A>C | NP_001171658.1:p.Thr183Pro | |
| NM_001184730.2:c.241A>C | NP_001171659.1:p.Thr81Pro | |
| NM_015937.5:c.547A>C | NP_057021.2:p.Thr183Pro | |
| NR_047691.1:n.597A>C | ||
| NR_047692.1:n.509A>C | ||
| NR_047693.1:n.584-156A>C | ||
| NR_047694.1:n.459A>C | ||
| NR_047695.1:n.278-156A>C | ||
| XM_005260430.2:c.241A>C | XP_005260487.1:p.Thr81Pro | |
| XM_005260432.1:c.-240A>C | XP_005260489.1:n.-240A>C | |
| XM_005260432.3:c.-240A>C | XP_005260489.1:n.-240A>C | |
| XR_001754286.2:n.563A>C | ||
| XR_001754287.2:n.563A>C | ||
| NM_015937.6:c.547A>C MANE Select | NP_057021.2:p.Thr183Pro | |
| NM_001184728.3:c.379A>C | NP_001171657.1:p.Thr127Pro | |
| NM_001184729.3:c.547A>C | NP_001171658.1:p.Thr183Pro | |
| NM_001184730.3:c.241A>C | NP_001171659.1:p.Thr81Pro | |
| NR_047691.2:n.523A>C | ||
| NR_047692.2:n.435A>C | ||
| NR_047693.2:n.510-156A>C | ||
| NR_047694.2:n.385A>C | ||
| NR_047695.2:n.204-156A>C |