Linked Data
ClinVar Variation Id:
820247
ClinVar RCV Id:
RCV001013508
dbSNP Id:
rs764497795
ExAC:
5:131930649 A / G
gnomAD v2:
5-131930649-A-G
gnomAD v4:
5-132594957-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132594957A>G , CM000667.2:g.132594957A>G | GRCh38 |
| NC_000005.9:g.131930649A>G , CM000667.1:g.131930649A>G | GRCh37 |
| NC_000005.8:g.131958548A>G | NCBI36 |
| NG_021151.1:g.43034A>G | |
| NG_021151.2:g.42981A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1882A>G MANE Select | ENSP00000368100.4:p.Lys628Glu | |
| ENST00000638452.2:c.1585A>G | ENSP00000492349.2:p.Lys529Glu | |
| ENST00000638504.1:n.1480-147A>G | ||
| ENST00000638568.2:c.1585A>G | ENSP00000491158.2:p.Lys529Glu | |
| ENST00000639899.1:n.2401A>G | ||
| ENST00000640655.2:c.1585A>G | ENSP00000491596.2:p.Lys529Glu | |
| ENST00000651160.1:c.*16-147A>G | ENSP00000498829.1:n.*16-147A>G | |
| ENST00000651658.1:n.2425A>G | ||
| ENST00000651723.1:c.*1965A>G | ENSP00000498237.1:n.*1965A>G | |
| ENST00000652016.1:c.*89-147A>G | ENSP00000498267.1:n.*89-147A>G | |
| ENST00000652485.1:c.1915A>G | ENSP00000498973.1:p.Lys639Glu | |
| ENST00000378823.7:c.1882A>G | ENSP00000368100.4:p.Lys628Glu | |
| ENST00000423956.5:c.*68A>G | ENSP00000390971.1:n.*68A>G | |
| ENST00000453394.5:c.1699A>G | ENSP00000400049.1:p.Lys567Glu | |
| ENST00000533482.5:c.*1508A>G | ENSP00000431225.1:n.*1508A>G | |
| NM_005732.3:c.1882A>G | NP_005723.2:p.Lys628Glu | |
| NM_005732.4:c.1882A>G MANE Select | NP_005723.2:p.Lys628Glu |