Linked Data
ClinVar Variation Id:
280039
dbSNP Id:
rs886041335
gnomAD v3:
15-42410586-A-G
gnomAD v4:
15-42410586-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42410586A>G , CM000677.2:g.42410586A>G | GRCh38 |
| NC_000015.9:g.42702784A>G , CM000677.1:g.42702784A>G | GRCh37 |
| NC_000015.8:g.40490076A>G | NCBI36 |
| NG_008660.1:g.67484A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.190-2A>G | ENSP00000336840.4:n.190-2A>G | |
| ENST00000349748.8:c.1909-2A>G | ENSP00000183936.4:n.1909-2A>G | |
| ENST00000357568.8:c.2167-2A>G | ENSP00000350181.3:n.2167-2A>G | |
| ENST00000397163.8:c.2185-2A>G MANE Select | ENSP00000380349.3:n.2185-2A>G | |
| ENST00000397204.9:c.190-2A>G | ENSP00000380387.4:n.190-2A>G | |
| ENST00000466222.7:n.539A>G | ||
| ENST00000466369.5:n.2676-2A>G | ||
| ENST00000495723.1:n.3056-2A>G | ||
| ENST00000549793.5:n.2398-2A>G | ||
| ENST00000562199.2:c.189-2A>G | ENSP00000501034.1:n.189-2A>G | |
| ENST00000568153.2:c.51-2A>G | ||
| ENST00000569136.6:c.190-2A>G | ENSP00000455254.1:n.190-2A>G | |
| ENST00000638141.2:n.1924-2A>G | ||
| ENST00000673646.1:c.749-2A>G | ENSP00000501007.1:n.749-2A>G | |
| ENST00000673684.1:n.167-2A>G | ||
| ENST00000673687.1:n.783A>G | ||
| ENST00000673692.1:c.190-2A>G | ENSP00000501138.1:n.190-2A>G | |
| ENST00000673705.1:c.511-2A>G | ENSP00000501021.1:n.511-2A>G | |
| ENST00000673743.1:c.88-2A>G | ENSP00000500989.1:n.88-2A>G | |
| ENST00000673750.1:c.190-2A>G | ENSP00000501173.1:n.190-2A>G | |
| ENST00000673771.1:c.190-2A>G | ENSP00000501023.1:n.190-2A>G | |
| ENST00000673774.1:n.1318-2A>G | ||
| ENST00000673839.1:c.190-2A>G | ENSP00000501188.1:n.190-2A>G | |
| ENST00000673851.1:c.190-2A>G | ENSP00000501142.1:n.190-2A>G | |
| ENST00000673854.1:n.5607-2A>G | ||
| ENST00000673886.1:c.190-2A>G | ENSP00000501155.1:n.190-2A>G | |
| ENST00000673890.1:c.190-2A>G | ENSP00000501293.1:n.190-2A>G | |
| ENST00000673893.1:c.388-2A>G | ENSP00000500987.1:n.388-2A>G | |
| ENST00000673928.1:c.190-2A>G | ENSP00000501099.1:n.190-2A>G | |
| ENST00000673936.1:c.190-2A>G | ENSP00000501189.1:n.190-2A>G | |
| ENST00000673939.1:c.190-2A>G | ENSP00000501129.1:n.190-2A>G | |
| ENST00000673950.1:n.459-2A>G | ||
| ENST00000673978.1:c.328-2A>G | ENSP00000500976.1:n.328-2A>G | |
| ENST00000673987.1:c.190-2A>G | ENSP00000501231.1:n.190-2A>G | |
| ENST00000674011.1:c.190-2A>G | ENSP00000501171.1:n.190-2A>G | |
| ENST00000674018.1:c.190-2A>G | ENSP00000501271.1:n.190-2A>G | |
| ENST00000674027.1:n.334A>G | ||
| ENST00000674041.1:c.190-2A>G | ENSP00000500956.1:n.190-2A>G | |
| ENST00000674052.1:c.409-2A>G | ENSP00000501057.1:n.409-2A>G | |
| ENST00000674093.1:c.190-2A>G | ENSP00000501303.1:n.190-2A>G | |
| ENST00000674119.1:c.190-2A>G | ENSP00000501217.1:n.190-2A>G | |
| ENST00000674135.1:c.367-2A>G | ENSP00000501178.1:n.367-2A>G | |
| ENST00000674139.1:c.190-2A>G | ENSP00000501054.1:n.190-2A>G | |
| ENST00000674146.1:c.190-2A>G | ENSP00000501175.1:n.190-2A>G | |
| ENST00000674149.1:c.190-2A>G | ENSP00000501112.1:n.190-2A>G | |
| ENST00000318023.11:c.2041-2A>G | ENSP00000326281.8:n.2041-2A>G | |
| ENST00000337571.8:c.190-2A>G | ENSP00000336840.4:n.190-2A>G | |
| ENST00000349748.7:c.1909-2A>G | ENSP00000183936.4:n.1909-2A>G | |
| ENST00000356316.7:c.190-2A>G | ENSP00000348667.4:n.190-2A>G | |
| ENST00000357568.7:c.2167-2A>G | ENSP00000350181.3:n.2167-2A>G | |
| ENST00000397163.7:c.2185-2A>G | ENSP00000380349.3:n.2185-2A>G | |
| ENST00000397200.8:c.649-2A>G | ENSP00000380384.4:n.649-2A>G | |
| ENST00000397204.8:c.190-2A>G | ENSP00000380387.4:n.190-2A>G | |
| ENST00000466222.6:n.1108-2A>G | ||
| ENST00000561817.5:c.190-2A>G | ENSP00000456575.1:n.190-2A>G | |
| ENST00000562199.1:n.189-2A>G | ||
| ENST00000564503.5:c.282-56A>G | ||
| ENST00000565274.5:c.417-56A>G | ENSP00000457759.1:n.417-56A>G | |
| ENST00000565559.5:c.367-2A>G | ENSP00000457878.1:n.367-2A>G | |
| ENST00000569136.5:c.190-2A>G | ENSP00000455254.1:n.190-2A>G | |
| ENST00000569827.5:c.517-2A>G | ENSP00000454379.1:n.517-2A>G | |
| NM_000070.2:c.2185-2A>G | NP_000061.1:n.2185-2A>G | |
| NM_024344.1:c.2167-2A>G | NP_077320.1:n.2167-2A>G | |
| NM_173087.1:c.1909-2A>G | NP_775110.1:n.1909-2A>G | |
| NM_173088.1:c.649-2A>G | NP_775111.1:n.649-2A>G | |
| NM_173089.1:c.190-2A>G | NP_775112.1:n.190-2A>G | |
| NM_173090.1:c.190-2A>G | NP_775113.1:n.190-2A>G | |
| NM_000070.3:c.2185-2A>G MANE Select | NP_000061.1:n.2185-2A>G | |
| NM_024344.2:c.2167-2A>G | NP_077320.1:n.2167-2A>G | |
| NM_173087.2:c.1909-2A>G | NP_775110.1:n.1909-2A>G | |
| NM_173088.2:c.649-2A>G | NP_775111.1:n.649-2A>G | |
| NM_173089.2:c.190-2A>G | NP_775112.1:n.190-2A>G | |
| NM_173090.2:c.190-2A>G | NP_775113.1:n.190-2A>G |