Linked Data
ClinVar Variation Id:
217155
dbSNP Id:
rs863224962
gnomAD v4:
15-42411285-A-G
PubMed:
PMID:22926650
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42411285A>G , CM000677.2:g.42411285A>G | GRCh38 |
| NC_000015.9:g.42703483A>G , CM000677.1:g.42703483A>G | GRCh37 |
| NC_000015.8:g.40490775A>G | NCBI36 |
| NG_008660.1:g.68183A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.386-2A>G | ENSP00000336840.4:n.386-2A>G | |
| ENST00000349748.8:c.2105-2A>G | ENSP00000183936.4:n.2105-2A>G | |
| ENST00000357568.8:c.2363-2A>G | ENSP00000350181.3:n.2363-2A>G | |
| ENST00000397163.8:c.2381-2A>G MANE Select | ENSP00000380349.3:n.2381-2A>G | |
| ENST00000397204.9:c.386-2A>G | ENSP00000380387.4:n.386-2A>G | |
| ENST00000466222.7:n.752-2A>G | ||
| ENST00000466369.5:n.2872-2A>G | ||
| ENST00000495723.1:n.3252-2A>G | ||
| ENST00000549793.5:n.2594-2A>G | ||
| ENST00000562199.2:c.385-2A>G | ENSP00000501034.1:n.385-2A>G | |
| ENST00000567817.6:c.170-2A>G | ENSP00000456514.2:n.170-2A>G | |
| ENST00000568153.2:c.247-2A>G | ||
| ENST00000569136.6:c.386-2A>G | ENSP00000455254.1:n.386-2A>G | |
| ENST00000638141.2:n.2120-2A>G | ||
| ENST00000673646.1:c.945-2A>G | ENSP00000501007.1:n.945-2A>G | |
| ENST00000673684.1:n.363-2A>G | ||
| ENST00000673692.1:c.386-2A>G | ENSP00000501138.1:n.386-2A>G | |
| ENST00000673705.1:c.1208A>G | ENSP00000501021.1:n.1208A>G | |
| ENST00000673743.1:c.284-2A>G | ENSP00000500989.1:n.284-2A>G | |
| ENST00000673750.1:c.386-2A>G | ENSP00000501173.1:n.386-2A>G | |
| ENST00000673771.1:c.386-2A>G | ENSP00000501023.1:n.386-2A>G | |
| ENST00000673774.1:n.1514-2A>G | ||
| ENST00000673839.1:c.386-2A>G | ENSP00000501188.1:n.386-2A>G | |
| ENST00000673851.1:c.386-2A>G | ENSP00000501142.1:n.386-2A>G | |
| ENST00000673854.1:n.5803-2A>G | ||
| ENST00000673886.1:c.386-2A>G | ENSP00000501155.1:n.386-2A>G | |
| ENST00000673890.1:c.386-2A>G | ENSP00000501293.1:n.386-2A>G | |
| ENST00000673928.1:c.386-2A>G | ENSP00000501099.1:n.386-2A>G | |
| ENST00000673936.1:c.386-2A>G | ENSP00000501189.1:n.386-2A>G | |
| ENST00000673939.1:c.*101-2A>G | ENSP00000501129.1:n.*101-2A>G | |
| ENST00000673950.1:n.655-2A>G | ||
| ENST00000673978.1:c.524-2A>G | ENSP00000500976.1:n.524-2A>G | |
| ENST00000673987.1:c.*101-2A>G | ENSP00000501231.1:n.*101-2A>G | |
| ENST00000674011.1:c.*175-2A>G | ENSP00000501171.1:n.*175-2A>G | |
| ENST00000674018.1:c.386-2A>G | ENSP00000501271.1:n.386-2A>G | |
| ENST00000674027.1:n.532-2A>G | ||
| ENST00000674041.1:c.386-2A>G | ENSP00000500956.1:n.386-2A>G | |
| ENST00000674052.1:c.605-2A>G | ENSP00000501057.1:n.605-2A>G | |
| ENST00000674093.1:c.386-2A>G | ENSP00000501303.1:n.386-2A>G | |
| ENST00000674119.1:c.386-2A>G | ENSP00000501217.1:n.386-2A>G | |
| ENST00000674135.1:c.563-2A>G | ENSP00000501178.1:n.563-2A>G | |
| ENST00000674139.1:c.386-2A>G | ENSP00000501054.1:n.386-2A>G | |
| ENST00000674146.1:c.386-2A>G | ENSP00000501175.1:n.386-2A>G | |
| ENST00000674149.1:c.386-2A>G | ENSP00000501112.1:n.386-2A>G | |
| ENST00000318023.11:c.2237-2A>G | ENSP00000326281.8:n.2237-2A>G | |
| ENST00000337571.8:c.386-2A>G | ENSP00000336840.4:n.386-2A>G | |
| ENST00000349748.7:c.2105-2A>G | ENSP00000183936.4:n.2105-2A>G | |
| ENST00000356316.7:c.386-2A>G | ENSP00000348667.4:n.386-2A>G | |
| ENST00000357568.7:c.2363-2A>G | ENSP00000350181.3:n.2363-2A>G | |
| ENST00000397163.7:c.2381-2A>G | ENSP00000380349.3:n.2381-2A>G | |
| ENST00000397200.8:c.845-2A>G | ENSP00000380384.4:n.845-2A>G | |
| ENST00000397204.8:c.386-2A>G | ENSP00000380387.4:n.386-2A>G | |
| ENST00000466222.6:n.1304-2A>G | ||
| ENST00000561817.5:c.386-2A>G | ENSP00000456575.1:n.386-2A>G | |
| ENST00000564503.5:c.424-2A>G | ||
| ENST00000565274.5:c.559-2A>G | ENSP00000457759.1:n.559-2A>G | |
| ENST00000567817.5:c.197-2A>G | ENSP00000456514.1:n.197-2A>G | |
| ENST00000568153.1:c.118-2A>G | ||
| ENST00000569136.5:c.386-2A>G | ENSP00000455254.1:n.386-2A>G | |
| ENST00000569827.5:c.713-2A>G | ENSP00000454379.1:n.713-2A>G | |
| NM_000070.2:c.2381-2A>G | NP_000061.1:n.2381-2A>G | |
| NM_024344.1:c.2363-2A>G | NP_077320.1:n.2363-2A>G | |
| NM_173087.1:c.2105-2A>G | NP_775110.1:n.2105-2A>G | |
| NM_173088.1:c.845-2A>G | NP_775111.1:n.845-2A>G | |
| NM_173089.1:c.386-2A>G | NP_775112.1:n.386-2A>G | |
| NM_173090.1:c.386-2A>G | NP_775113.1:n.386-2A>G | |
| NM_000070.3:c.2381-2A>G MANE Select | NP_000061.1:n.2381-2A>G | |
| NM_024344.2:c.2363-2A>G | NP_077320.1:n.2363-2A>G | |
| NM_173087.2:c.2105-2A>G | NP_775110.1:n.2105-2A>G | |
| NM_173088.2:c.845-2A>G | NP_775111.1:n.845-2A>G | |
| NM_173089.2:c.386-2A>G | NP_775112.1:n.386-2A>G | |
| NM_173090.2:c.386-2A>G | NP_775113.1:n.386-2A>G |