Linked Data
ClinVar Variation Id:
92414
dbSNP Id:
rs149095128
ExAC:
15:42703497 C / A
gnomAD v2:
15-42703497-C-A
gnomAD v3:
15-42411299-C-A
gnomAD v4:
15-42411299-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42411299C>A , CM000677.2:g.42411299C>A | GRCh38 |
| NC_000015.9:g.42703497C>A , CM000677.1:g.42703497C>A | GRCh37 |
| NC_000015.8:g.40490789C>A | NCBI36 |
| NG_008660.1:g.68197C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337571.9:c.398C>A | ENSP00000336840.4:p.Ala133Glu | |
| ENST00000349748.8:c.2117C>A | ENSP00000183936.4:p.Ala706Glu | |
| ENST00000357568.8:c.2375C>A | ENSP00000350181.3:p.Ala792Glu | |
| ENST00000397163.8:c.2393C>A MANE Select | ENSP00000380349.3:p.Ala798Glu | |
| ENST00000397204.9:c.398C>A | ENSP00000380387.4:p.Ala133Glu | |
| ENST00000466222.7:n.764C>A | ||
| ENST00000466369.5:n.2884C>A | ||
| ENST00000495723.1:n.3264C>A | ||
| ENST00000549793.5:n.2606C>A | ||
| ENST00000562199.2:c.397C>A | ENSP00000501034.1:n.397C>A | |
| ENST00000567817.6:c.182C>A | ENSP00000456514.2:p.Ala61Glu | |
| ENST00000568153.2:c.259C>A | ||
| ENST00000569136.6:c.398C>A | ENSP00000455254.1:p.Ala133Glu | |
| ENST00000638141.2:n.2132C>A | ||
| ENST00000673646.1:c.957C>A | ENSP00000501007.1:n.957C>A | |
| ENST00000673684.1:n.375C>A | ||
| ENST00000673692.1:c.398C>A | ENSP00000501138.1:p.Ala133Glu | |
| ENST00000673705.1:c.1222C>A | ENSP00000501021.1:n.1222C>A | |
| ENST00000673743.1:c.296C>A | ENSP00000500989.1:p.Ala99Glu | |
| ENST00000673750.1:c.398C>A | ENSP00000501173.1:p.Ala133Glu | |
| ENST00000673771.1:c.398C>A | ENSP00000501023.1:p.Ala133Glu | |
| ENST00000673774.1:n.1526C>A | ||
| ENST00000673839.1:c.398C>A | ENSP00000501188.1:p.Ala133Glu | |
| ENST00000673851.1:c.398C>A | ENSP00000501142.1:p.Ala133Glu | |
| ENST00000673854.1:n.5815C>A | ||
| ENST00000673886.1:c.398C>A | ENSP00000501155.1:p.Ala133Glu | |
| ENST00000673890.1:c.398C>A | ENSP00000501293.1:p.Ala133Glu | |
| ENST00000673928.1:c.398C>A | ENSP00000501099.1:p.Ala133Glu | |
| ENST00000673936.1:c.398C>A | ENSP00000501189.1:p.Ala133Glu | |
| ENST00000673939.1:c.*113C>A | ENSP00000501129.1:n.*113C>A | |
| ENST00000673950.1:n.667C>A | ||
| ENST00000673978.1:c.536C>A | ENSP00000500976.1:p.Ala179Glu | |
| ENST00000673987.1:c.*113C>A | ENSP00000501231.1:n.*113C>A | |
| ENST00000674011.1:c.*187C>A | ENSP00000501171.1:n.*187C>A | |
| ENST00000674018.1:c.398C>A | ENSP00000501271.1:p.Ala133Glu | |
| ENST00000674027.1:n.544C>A | ||
| ENST00000674041.1:c.398C>A | ENSP00000500956.1:p.Ala133Glu | |
| ENST00000674052.1:c.617C>A | ENSP00000501057.1:p.Ala206Glu | |
| ENST00000674093.1:c.398C>A | ENSP00000501303.1:p.Ala133Glu | |
| ENST00000674119.1:c.398C>A | ENSP00000501217.1:p.Ala133Glu | |
| ENST00000674135.1:c.575C>A | ENSP00000501178.1:p.Ala192Glu | |
| ENST00000674139.1:c.398C>A | ENSP00000501054.1:p.Ala133Glu | |
| ENST00000674146.1:c.398C>A | ENSP00000501175.1:p.Ala133Glu | |
| ENST00000674149.1:c.398C>A | ENSP00000501112.1:p.Ala133Glu | |
| ENST00000318023.11:c.2249C>A | ENSP00000326281.8:p.Ala750Glu | |
| ENST00000337571.8:c.398C>A | ENSP00000336840.4:p.Ala133Glu | |
| ENST00000349748.7:c.2117C>A | ENSP00000183936.4:p.Ala706Glu | |
| ENST00000356316.7:c.398C>A | ENSP00000348667.4:p.Ala133Glu | |
| ENST00000357568.7:c.2375C>A | ENSP00000350181.3:p.Ala792Glu | |
| ENST00000397163.7:c.2393C>A | ENSP00000380349.3:p.Ala798Glu | |
| ENST00000397200.8:c.857C>A | ENSP00000380384.4:p.Ala286Glu | |
| ENST00000397204.8:c.398C>A | ENSP00000380387.4:p.Ala133Glu | |
| ENST00000466222.6:n.1316C>A | ||
| ENST00000561817.5:c.398C>A | ENSP00000456575.1:p.Ala133Glu | |
| ENST00000564503.5:c.436C>A | ||
| ENST00000565274.5:c.571C>A | ENSP00000457759.1:n.571C>A | |
| ENST00000567817.5:c.209C>A | ENSP00000456514.1:p.Ala70Glu | |
| ENST00000568153.1:c.130C>A | ||
| ENST00000569136.5:c.398C>A | ENSP00000455254.1:p.Ala133Glu | |
| ENST00000569827.5:c.725C>A | ENSP00000454379.1:p.Ala242Glu | |
| NM_000070.2:c.2393C>A | NP_000061.1:p.Ala798Glu | |
| NM_024344.1:c.2375C>A | NP_077320.1:p.Ala792Glu | |
| NM_173087.1:c.2117C>A | NP_775110.1:p.Ala706Glu | |
| NM_173088.1:c.857C>A | NP_775111.1:p.Ala286Glu | |
| NM_173089.1:c.398C>A | NP_775112.1:p.Ala133Glu | |
| NM_173090.1:c.398C>A | NP_775113.1:p.Ala133Glu | |
| NM_000070.3:c.2393C>A MANE Select | NP_000061.1:p.Ala798Glu | |
| NM_024344.2:c.2375C>A | NP_077320.1:p.Ala792Glu | |
| NM_173087.2:c.2117C>A | NP_775110.1:p.Ala706Glu | |
| NM_173088.2:c.857C>A | NP_775111.1:p.Ala286Glu | |
| NM_173089.2:c.398C>A | NP_775112.1:p.Ala133Glu | |
| NM_173090.2:c.398C>A | NP_775113.1:p.Ala133Glu |