Linked Data
ClinVar Variation Id:
193731
dbSNP Id:
rs36139924
ExAC:
7:299881 A / G
gnomAD v2:
7-299881-A-G
gnomAD v3:
7-259915-A-G
gnomAD v4:
7-259915-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.259915A>G , CM000669.2:g.259915A>G | GRCh38 |
| NC_000007.13:g.299881A>G , CM000669.1:g.299881A>G | GRCh37 |
| NG_033970.1:g.69551A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.1690A>G MANE Select | ENSP00000322323.5:p.Asn564Asp | |
| ENST00000313766.5:c.1690A>G | ENSP00000322323.5:p.Asn564Asp | |
| ENST00000515795.1:n.1347A>G | ||
| NM_020223.3:c.1690A>G | NP_064608.2:p.Asn564Asp | |
| XR_242097.3:n.1837A>G | ||
| XM_017012450.1:c.1951A>G | XP_016867939.1:p.Asn651Asp | |
| XM_017012451.1:c.1948A>G | XP_016867940.1:p.Asn650Asp | |
| XM_017012455.2:c.988A>G | XP_016867944.1:p.Asn330Asp | |
| NM_020223.4:c.1690A>G MANE Select | NP_064608.2:p.Asn564Asp |