Linked Data
ClinVar Variation Id:
1156626
ClinVar RCV Id:
RCV003771528
dbSNP Id:
rs2114024468
gnomAD v4:
6-52479710-C-G
MyVariant Identifiers:
chr6:g.52344508C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52479710C>G , CM000668.2:g.52479710C>G | GRCh38 |
| NC_000006.11:g.52344508C>G , CM000668.1:g.52344508C>G | GRCh37 |
| NC_000006.10:g.52452467C>G | NCBI36 |
| NG_016760.1:g.64515C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.1563C>G MANE Select | ENSP00000360107.4:p.Ala521= | |
| ENST00000480623.6:c.1563C>G | ENSP00000434498.2:p.Ala521= | |
| ENST00000635760.1:c.1239C>G | ENSP00000489765.1:p.Ala413= | |
| ENST00000635812.1:c.*864C>G | ENSP00000490859.1:n.*864C>G | |
| ENST00000635866.1:c.*1432C>G | ENSP00000489866.1:n.*1432C>G | |
| ENST00000635911.1:n.3081C>G | ||
| ENST00000635984.1:c.1239C>G | ENSP00000489921.1:p.Ala413= | |
| ENST00000635996.1:c.1563C>G | ENSP00000490256.1:p.Ala521= | |
| ENST00000636107.1:c.1563C>G | ENSP00000489680.1:p.Ala521= | |
| ENST00000636311.1:n.1457C>G | ||
| ENST00000636343.1:c.1229C>G | ||
| ENST00000636379.1:c.1275C>G | ENSP00000490622.1:p.Ala425= | |
| ENST00000636398.1:c.1263C>G | ENSP00000489654.1:n.1263C>G | |
| ENST00000636489.1:c.1506C>G | ENSP00000489998.1:p.Ala502= | |
| ENST00000636616.1:n.1124C>G | ||
| ENST00000636702.1:c.1533C>G | ENSP00000489623.1:p.Ala511= | |
| ENST00000636954.1:c.1506C>G | ENSP00000489966.1:p.Ala502= | |
| ENST00000637089.1:c.1563C>G | ENSP00000489854.1:p.Ala521= | |
| ENST00000637121.1:n.1365C>G | ||
| ENST00000637263.1:c.1563C>G | ENSP00000489700.1:p.Ala521= | |
| ENST00000637340.1:n.3488C>G | ||
| ENST00000637353.1:c.1563C>G | ENSP00000490441.1:p.Ala521= | |
| ENST00000637602.1:c.*1264C>G | ENSP00000490074.1:n.*1264C>G | |
| ENST00000637849.1:n.1627C>G | ||
| ENST00000637892.1:n.1767C>G | ||
| ENST00000371068.9:c.1563C>G | ENSP00000360107.4:p.Ala521= | |
| ENST00000480623.5:c.*1983C>G | ENSP00000434498.1:n.*1983C>G | |
| ENST00000538167.2:c.1506C>G | ENSP00000444521.1:p.Ala502= | |
| NM_001172420.1:c.1506C>G | NP_001165891.1:p.Ala502= | |
| NM_018100.3:c.1563C>G | NP_060570.2:p.Ala521= | |
| NR_033327.1:n.3035C>G | ||
| NM_018100.4:c.1563C>G MANE Select | NP_060570.2:p.Ala521= | |
| NM_001172420.2:c.1506C>G | NP_001165891.1:p.Ala502= | |
| NR_033327.2:n.2889C>G |