Linked Data
ClinVar Variation Id:
885874
dbSNP Id:
rs749614603
ExAC:
15:42702136 C / G
gnomAD v2:
15-42702136-C-G
gnomAD v3:
15-42409938-C-G
gnomAD v4:
15-42409938-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42409938C>G , CM000677.2:g.42409938C>G | GRCh38 |
| NC_000015.9:g.42702136C>G , CM000677.1:g.42702136C>G | GRCh37 |
| NC_000015.8:g.40489428C>G | NCBI36 |
| NG_008660.1:g.66836C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.63C>G | ENSP00000336840.4:p.Asp21Glu | |
| ENST00000349748.8:c.1782C>G | ENSP00000183936.4:p.Asp594Glu | |
| ENST00000357568.8:c.2040C>G | ENSP00000350181.3:p.Asp680Glu | |
| ENST00000397163.8:c.2058C>G MANE Select | ENSP00000380349.3:p.Asp686Glu | |
| ENST00000397204.9:c.63C>G | ENSP00000380387.4:p.Asp21Glu | |
| ENST00000466222.7:n.323C>G | ||
| ENST00000466369.5:n.2549C>G | ||
| ENST00000495723.1:n.2929C>G | ||
| ENST00000549793.5:n.2271C>G | ||
| ENST00000562199.2:c.66C>G | ENSP00000501034.1:p.Asp22Glu | |
| ENST00000569136.6:c.63C>G | ENSP00000455254.1:p.Asp21Glu | |
| ENST00000638141.2:n.1797C>G | ||
| ENST00000673646.1:c.622C>G | ENSP00000501007.1:n.622C>G | |
| ENST00000673687.1:n.135C>G | ||
| ENST00000673692.1:c.63C>G | ENSP00000501138.1:p.Asp21Glu | |
| ENST00000673705.1:c.453C>G | ENSP00000501021.1:n.453C>G | |
| ENST00000673743.1:c.-40C>G | ENSP00000500989.1:n.-40C>G | |
| ENST00000673750.1:c.63C>G | ENSP00000501173.1:p.Asp21Glu | |
| ENST00000673771.1:c.63C>G | ENSP00000501023.1:p.Asp21Glu | |
| ENST00000673774.1:n.759C>G | ||
| ENST00000673839.1:c.63C>G | ENSP00000501188.1:p.Asp21Glu | |
| ENST00000673851.1:c.63C>G | ENSP00000501142.1:p.Asp21Glu | |
| ENST00000673854.1:n.5480C>G | ||
| ENST00000673886.1:c.63C>G | ENSP00000501155.1:p.Asp21Glu | |
| ENST00000673890.1:c.63C>G | ENSP00000501293.1:p.Asp21Glu | |
| ENST00000673928.1:c.63C>G | ENSP00000501099.1:p.Asp21Glu | |
| ENST00000673936.1:c.63C>G | ENSP00000501189.1:p.Asp21Glu | |
| ENST00000673939.1:c.63C>G | ENSP00000501129.1:p.Asp21Glu | |
| ENST00000673950.1:n.332C>G | ||
| ENST00000673978.1:c.201C>G | ENSP00000500976.1:p.Asp67Glu | |
| ENST00000673987.1:c.63C>G | ENSP00000501231.1:p.Asp21Glu | |
| ENST00000674011.1:c.63C>G | ENSP00000501171.1:p.Asp21Glu | |
| ENST00000674018.1:c.63C>G | ENSP00000501271.1:p.Asp21Glu | |
| ENST00000674027.1:n.118C>G | ||
| ENST00000674041.1:c.63C>G | ENSP00000500956.1:p.Asp21Glu | |
| ENST00000674052.1:c.282C>G | ENSP00000501057.1:p.Asp94Glu | |
| ENST00000674093.1:c.63C>G | ENSP00000501303.1:p.Asp21Glu | |
| ENST00000674119.1:c.63C>G | ENSP00000501217.1:p.Asp21Glu | |
| ENST00000674130.1:n.276C>G | ||
| ENST00000674135.1:c.240C>G | ENSP00000501178.1:p.Asp80Glu | |
| ENST00000674139.1:c.63C>G | ENSP00000501054.1:p.Asp21Glu | |
| ENST00000674146.1:c.63C>G | ENSP00000501175.1:p.Asp21Glu | |
| ENST00000674149.1:c.63C>G | ENSP00000501112.1:p.Asp21Glu | |
| ENST00000318023.11:c.1914C>G | ENSP00000326281.8:p.Asp638Glu | |
| ENST00000337571.8:c.63C>G | ENSP00000336840.4:p.Asp21Glu | |
| ENST00000349748.7:c.1782C>G | ENSP00000183936.4:p.Asp594Glu | |
| ENST00000356316.7:c.63C>G | ENSP00000348667.4:p.Asp21Glu | |
| ENST00000357568.7:c.2040C>G | ENSP00000350181.3:p.Asp680Glu | |
| ENST00000397163.7:c.2058C>G | ENSP00000380349.3:p.Asp686Glu | |
| ENST00000397200.8:c.522C>G | ENSP00000380384.4:p.Asp174Glu | |
| ENST00000397204.8:c.63C>G | ENSP00000380387.4:p.Asp21Glu | |
| ENST00000466222.6:n.981C>G | ||
| ENST00000561817.5:c.63C>G | ENSP00000456575.1:p.Asp21Glu | |
| ENST00000562199.1:n.66C>G | ||
| ENST00000564503.5:c.155C>G | ||
| ENST00000565274.5:c.270C>G | ENSP00000457759.1:p.Asp90Glu | |
| ENST00000565559.5:c.240C>G | ENSP00000457878.1:p.Asp80Glu | |
| ENST00000567071.5:c.538C>G | ||
| ENST00000569136.5:c.63C>G | ENSP00000455254.1:p.Asp21Glu | |
| ENST00000569827.5:c.390C>G | ENSP00000454379.1:p.Asp130Glu | |
| NM_000070.2:c.2058C>G | NP_000061.1:p.Asp686Glu | |
| NM_024344.1:c.2040C>G | NP_077320.1:p.Asp680Glu | |
| NM_173087.1:c.1782C>G | NP_775110.1:p.Asp594Glu | |
| NM_173088.1:c.522C>G | NP_775111.1:p.Asp174Glu | |
| NM_173089.1:c.63C>G | NP_775112.1:p.Asp21Glu | |
| NM_173090.1:c.63C>G | NP_775113.1:p.Asp21Glu | |
| NM_000070.3:c.2058C>G MANE Select | NP_000061.1:p.Asp686Glu | |
| NM_024344.2:c.2040C>G | NP_077320.1:p.Asp680Glu | |
| NM_173087.2:c.1782C>G | NP_775110.1:p.Asp594Glu | |
| NM_173088.2:c.522C>G | NP_775111.1:p.Asp174Glu | |
| NM_173089.2:c.63C>G | NP_775112.1:p.Asp21Glu | |
| NM_173090.2:c.63C>G | NP_775113.1:p.Asp21Glu |