Linked Data
ClinVar Variation Id:
285817
dbSNP Id:
rs886043220
gnomAD v3:
15-42410496-G-A
gnomAD v4:
15-42410496-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42410496G>A , CM000677.2:g.42410496G>A | GRCh38 |
| NC_000015.9:g.42702694G>A , CM000677.1:g.42702694G>A | GRCh37 |
| NC_000015.8:g.40489986G>A | NCBI36 |
| NG_008660.1:g.67394G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.189G>A | ENSP00000336840.4:p.Gln63= | |
| ENST00000349748.8:c.1908G>A | ENSP00000183936.4:p.Gln636= | |
| ENST00000357568.8:c.2166G>A | ENSP00000350181.3:p.Gln722= | |
| ENST00000397163.8:c.2184G>A MANE Select | ENSP00000380349.3:p.Gln728= | |
| ENST00000397204.9:c.189G>A | ENSP00000380387.4:p.Gln63= | |
| ENST00000466222.7:n.449G>A | ||
| ENST00000466369.5:n.2675G>A | ||
| ENST00000495723.1:n.3055G>A | ||
| ENST00000549793.5:n.2397G>A | ||
| ENST00000562199.2:c.188G>A | ENSP00000501034.1:p.Arg63Lys | |
| ENST00000568153.2:c.50G>A | ||
| ENST00000569136.6:c.189G>A | ENSP00000455254.1:p.Gln63= | |
| ENST00000638141.2:n.1923G>A | ||
| ENST00000673646.1:c.748G>A | ENSP00000501007.1:n.748G>A | |
| ENST00000673684.1:n.166G>A | ||
| ENST00000673687.1:n.693G>A | ||
| ENST00000673692.1:c.189G>A | ENSP00000501138.1:p.Gln63= | |
| ENST00000673705.1:c.511-92G>A | ENSP00000501021.1:n.511-92G>A | |
| ENST00000673743.1:c.87G>A | ENSP00000500989.1:p.Gln29= | |
| ENST00000673750.1:c.189G>A | ENSP00000501173.1:p.Gln63= | |
| ENST00000673771.1:c.189G>A | ENSP00000501023.1:p.Gln63= | |
| ENST00000673774.1:n.1317G>A | ||
| ENST00000673839.1:c.189G>A | ENSP00000501188.1:p.Gln63= | |
| ENST00000673851.1:c.189G>A | ENSP00000501142.1:p.Gln63= | |
| ENST00000673854.1:n.5606G>A | ||
| ENST00000673886.1:c.189G>A | ENSP00000501155.1:p.Gln63= | |
| ENST00000673890.1:c.189G>A | ENSP00000501293.1:p.Gln63= | |
| ENST00000673893.1:c.387G>A | ENSP00000500987.1:n.387G>A | |
| ENST00000673928.1:c.189G>A | ENSP00000501099.1:p.Gln63= | |
| ENST00000673936.1:c.189G>A | ENSP00000501189.1:p.Gln63= | |
| ENST00000673939.1:c.189G>A | ENSP00000501129.1:p.Gln63= | |
| ENST00000673950.1:n.458G>A | ||
| ENST00000673978.1:c.327G>A | ENSP00000500976.1:p.Gln109= | |
| ENST00000673987.1:c.189G>A | ENSP00000501231.1:p.Gln63= | |
| ENST00000674011.1:c.189G>A | ENSP00000501171.1:p.Gln63= | |
| ENST00000674018.1:c.189G>A | ENSP00000501271.1:p.Gln63= | |
| ENST00000674027.1:n.244G>A | ||
| ENST00000674041.1:c.189G>A | ENSP00000500956.1:p.Gln63= | |
| ENST00000674052.1:c.408G>A | ENSP00000501057.1:p.Gln136= | |
| ENST00000674093.1:c.189G>A | ENSP00000501303.1:p.Gln63= | |
| ENST00000674119.1:c.189G>A | ENSP00000501217.1:p.Gln63= | |
| ENST00000674135.1:c.366G>A | ENSP00000501178.1:p.Gln122= | |
| ENST00000674139.1:c.189G>A | ENSP00000501054.1:p.Gln63= | |
| ENST00000674146.1:c.189G>A | ENSP00000501175.1:p.Gln63= | |
| ENST00000674149.1:c.189G>A | ENSP00000501112.1:p.Gln63= | |
| ENST00000318023.11:c.2040G>A | ENSP00000326281.8:p.Gln680= | |
| ENST00000337571.8:c.189G>A | ENSP00000336840.4:p.Gln63= | |
| ENST00000349748.7:c.1908G>A | ENSP00000183936.4:p.Gln636= | |
| ENST00000356316.7:c.189G>A | ENSP00000348667.4:p.Gln63= | |
| ENST00000357568.7:c.2166G>A | ENSP00000350181.3:p.Gln722= | |
| ENST00000397163.7:c.2184G>A | ENSP00000380349.3:p.Gln728= | |
| ENST00000397200.8:c.648G>A | ENSP00000380384.4:p.Gln216= | |
| ENST00000397204.8:c.189G>A | ENSP00000380387.4:p.Gln63= | |
| ENST00000466222.6:n.1107G>A | ||
| ENST00000561817.5:c.189G>A | ENSP00000456575.1:p.Gln63= | |
| ENST00000562199.1:n.188G>A | ||
| ENST00000564503.5:c.281G>A | ||
| ENST00000565274.5:c.416G>A | ENSP00000457759.1:n.416G>A | |
| ENST00000565559.5:c.366G>A | ENSP00000457878.1:p.Gln122= | |
| ENST00000569136.5:c.189G>A | ENSP00000455254.1:p.Gln63= | |
| ENST00000569827.5:c.516G>A | ENSP00000454379.1:p.Gln172= | |
| NM_000070.2:c.2184G>A | NP_000061.1:p.Gln728= | |
| NM_024344.1:c.2166G>A | NP_077320.1:p.Gln722= | |
| NM_173087.1:c.1908G>A | NP_775110.1:p.Gln636= | |
| NM_173088.1:c.648G>A | NP_775111.1:p.Gln216= | |
| NM_173089.1:c.189G>A | NP_775112.1:p.Gln63= | |
| NM_173090.1:c.189G>A | NP_775113.1:p.Gln63= | |
| NM_000070.3:c.2184G>A MANE Select | NP_000061.1:p.Gln728= | |
| NM_024344.2:c.2166G>A | NP_077320.1:p.Gln722= | |
| NM_173087.2:c.1908G>A | NP_775110.1:p.Gln636= | |
| NM_173088.2:c.648G>A | NP_775111.1:p.Gln216= | |
| NM_173089.2:c.189G>A | NP_775112.1:p.Gln63= | |
| NM_173090.2:c.189G>A | NP_775113.1:p.Gln63= |