Linked Data
ClinVar Variation Id:
1466711
ClinVar RCV Id:
RCV001959573
dbSNP Id:
rs201296747
ExAC:
1:160100019 A / G
gnomAD v2:
1-160100019-A-G
gnomAD v3:
1-160130229-A-G
gnomAD v4:
1-160130229-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160130229A>G , CM000663.2:g.160130229A>G | GRCh38 |
| NC_000001.10:g.160100019A>G , CM000663.1:g.160100019A>G | GRCh37 |
| NC_000001.9:g.158366643A>G | NCBI36 |
| NG_008014.1:g.19472A>G , LRG_6:g.19472A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.1589A>G MANE Select | ENSP00000354490.3:p.Glu530Gly | |
| ENST00000361216.7:c.1589A>G | ENSP00000354490.3:p.Glu530Gly | |
| ENST00000392233.7:c.1589A>G | ENSP00000376066.3:p.Glu530Gly | |
| ENST00000447527.1:c.721A>G | ||
| ENST00000472488.5:n.1692A>G | ||
| NM_000702.3:c.1589A>G | NP_000693.1:p.Glu530Gly | |
| NM_000702.4:c.1589A>G MANE Select | NP_000693.1:p.Glu530Gly |