Linked Data
ClinVar Variation Id:
1440092
ClinVar RCV Id:
RCV001936796
dbSNP Id:
rs534326487
ExAC:
15:42693888 C / G
gnomAD v2:
15-42693888-C-G
gnomAD v4:
15-42401690-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42401690C>G , CM000677.2:g.42401690C>G | GRCh38 |
| NC_000015.9:g.42693888C>G , CM000677.1:g.42693888C>G | GRCh37 |
| NC_000015.8:g.40481180C>G | NCBI36 |
| NG_008660.1:g.58588C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.1260C>G | ENSP00000183936.4:p.Asp420Glu | |
| ENST00000357568.8:c.1404C>G | ENSP00000350181.3:p.Asp468Glu | |
| ENST00000397163.8:c.1404C>G MANE Select | ENSP00000380349.3:p.Asp468Glu | |
| ENST00000466369.5:n.1913C>G | ||
| ENST00000483208.5:n.1635C>G | ||
| ENST00000495723.1:n.1635C>G | ||
| ENST00000549793.5:n.1635C>G | ||
| ENST00000638141.2:n.1275C>G | ||
| ENST00000673705.1:c.309+2038C>G | ENSP00000501021.1:n.309+2038C>G | |
| ENST00000318023.11:c.1260C>G | ENSP00000326281.8:p.Asp420Glu | |
| ENST00000349748.7:c.1260C>G | ENSP00000183936.4:p.Asp420Glu | |
| ENST00000357568.7:c.1404C>G | ENSP00000350181.3:p.Asp468Glu | |
| ENST00000397163.7:c.1404C>G | ENSP00000380349.3:p.Asp468Glu | |
| NM_000070.2:c.1404C>G | NP_000061.1:p.Asp468Glu | |
| NM_024344.1:c.1404C>G | NP_077320.1:p.Asp468Glu | |
| NM_173087.1:c.1260C>G | NP_775110.1:p.Asp420Glu | |
| NM_000070.3:c.1404C>G MANE Select | NP_000061.1:p.Asp468Glu | |
| NM_024344.2:c.1404C>G | NP_077320.1:p.Asp468Glu | |
| NM_173087.2:c.1260C>G | NP_775110.1:p.Asp420Glu |