Linked Data
ClinVar Variation Id:
484668
ClinVar RCV Id:
RCV000573614
dbSNP Id:
rs1203160075
gnomAD v2:
5-131930645-A-G
gnomAD v4:
5-132594953-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132594953A>G , CM000667.2:g.132594953A>G | GRCh38 |
| NC_000005.9:g.131930645A>G , CM000667.1:g.131930645A>G | GRCh37 |
| NC_000005.8:g.131958544A>G | NCBI36 |
| NG_021151.1:g.43030A>G | |
| NG_021151.2:g.42977A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1878A>G MANE Select | ENSP00000368100.4:p.Glu626= | |
| ENST00000638452.2:c.1581A>G | ENSP00000492349.2:p.Glu527= | |
| ENST00000638504.1:n.1480-151A>G | ||
| ENST00000638568.2:c.1581A>G | ENSP00000491158.2:p.Glu527= | |
| ENST00000639899.1:n.2397A>G | ||
| ENST00000640655.2:c.1581A>G | ENSP00000491596.2:p.Glu527= | |
| ENST00000651160.1:c.*16-151A>G | ENSP00000498829.1:n.*16-151A>G | |
| ENST00000651658.1:n.2421A>G | ||
| ENST00000651723.1:c.*1961A>G | ENSP00000498237.1:n.*1961A>G | |
| ENST00000652016.1:c.*89-151A>G | ENSP00000498267.1:n.*89-151A>G | |
| ENST00000652485.1:c.1911A>G | ENSP00000498973.1:p.Glu637= | |
| ENST00000378823.7:c.1878A>G | ENSP00000368100.4:p.Glu626= | |
| ENST00000423956.5:c.*64A>G | ENSP00000390971.1:n.*64A>G | |
| ENST00000453394.5:c.1695A>G | ENSP00000400049.1:p.Glu565= | |
| ENST00000533482.5:c.*1504A>G | ENSP00000431225.1:n.*1504A>G | |
| NM_005732.3:c.1878A>G | NP_005723.2:p.Glu626= | |
| NM_005732.4:c.1878A>G MANE Select | NP_005723.2:p.Glu626= |