Linked Data
ClinVar Variation Id:
1533364
ClinVar RCV Id:
RCV002087590
dbSNP Id:
rs1057290550
gnomAD v4:
1-156876513-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156876513C>A , CM000663.2:g.156876513C>A | GRCh38 |
| NC_000001.10:g.156846305C>A , CM000663.1:g.156846305C>A | GRCh37 |
| NC_000001.9:g.155112929C>A | NCBI36 |
| NG_007493.1:g.65764C>A , LRG_261:g.65764C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1566C>A | ENSP00000502725.1:p.Gly522= | |
| ENST00000392302.7:c.1566C>A | ENSP00000376120.3:p.Gly522= | |
| ENST00000497019.7:c.*338C>A | ENSP00000436804.2:n.*338C>A | |
| ENST00000524377.7:c.1746C>A MANE Select | ENSP00000431418.1:p.Gly582= | |
| ENST00000674537.1:c.1566C>A | ENSP00000502725.1:p.Gly522= | |
| ENST00000358660.3:c.1737C>A | ENSP00000351486.3:p.Gly579= | |
| ENST00000368196.7:c.1728C>A | ENSP00000357179.3:p.Gly576= | |
| ENST00000392302.6:c.1638C>A | ENSP00000376120.2:p.Gly546= | |
| ENST00000497019.6:c.*338C>A | ENSP00000436804.1:n.*338C>A | |
| ENST00000524377.5:c.1746C>A | ENSP00000431418.1:p.Gly582= | |
| ENST00000530298.5:n.2199C>A | ||
| NM_001007792.1:c.1638C>A , LRG_261t1:c.1638C>A | NP_001007793.1:p.Gly546= | |
| NM_001012331.1:c.1728C>A , LRG_261t2:c.1728C>A | NP_001012331.1:p.Gly576= | |
| NM_002529.3:c.1746C>A , LRG_261t3:c.1746C>A | NP_002520.2:p.Gly582= | |
| NM_001012331.2:c.1728C>A | NP_001012331.1:p.Gly576= | |
| NM_002529.4:c.1746C>A MANE Select | NP_002520.2:p.Gly582= |