Linked Data
ClinVar Variation Id:
585751
ClinVar RCV Id:
RCV000711374
dbSNP Id:
rs368330593
ExAC:
6:32006523 G / A
gnomAD v2:
6-32006523-G-A
gnomAD v3:
6-32038746-G-A
gnomAD v4:
6-32038746-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038746G>A , CM000668.2:g.32038746G>A | GRCh38 |
| NC_000006.11:g.32006523G>A , CM000668.1:g.32006523G>A | GRCh37 |
| NC_000006.10:g.32114502G>A | NCBI36 |
| NG_007941.2:g.5439G>A | |
| NG_007941.3:g.5442G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.227G>A MANE Select | ENSP00000496625.1:p.Arg76Lys | |
| ENST00000418967.6:c.227G>A | ENSP00000408860.2:p.Arg76Lys | |
| ENST00000435122.3:c.202+122G>A | ENSP00000415043.2:n.202+122G>A | |
| ENST00000464325.5:n.164G>A | ||
| ENST00000466779.5:c.227G>A | ENSP00000417321.1:p.Arg76Lys | |
| ENST00000469053.5:c.202+122G>A | ENSP00000418104.1:n.202+122G>A | |
| ENST00000471671.4:c.227G>A | ENSP00000418561.1:p.Arg76Lys | |
| ENST00000478281.5:c.227G>A | ENSP00000419572.1:p.Arg76Lys | |
| ENST00000479074.5:n.285G>A | ||
| ENST00000479730.5:n.382G>A | ||
| ENST00000480027.1:n.280G>A | ||
| ENST00000483041.5:n.377G>A | ||
| ENST00000486063.5:n.407G>A | ||
| ENST00000488465.1:n.235G>A | ||
| NM_000500.7:c.227G>A | NP_000491.4:p.Arg76Lys | |
| NM_001128590.3:c.202+122G>A | NP_001122062.3:n.202+122G>A | |
| XM_011514314.1:c.-198G>A | XP_011512616.1:n.-198G>A | |
| NM_000500.9:c.227G>A MANE Select | NP_000491.4:p.Arg76Lys | |
| NM_001368143.1:c.-198G>A | NP_001355072.1:n.-198G>A | |
| NM_001368144.1:c.-133+122G>A | NP_001355073.1:n.-133+122G>A | |
| NM_001128590.4:c.202+122G>A | NP_001122062.3:n.202+122G>A | |
| NM_001368143.2:c.-198G>A | NP_001355072.1:n.-198G>A | |
| NM_001368144.2:c.-133+122G>A | NP_001355073.1:n.-133+122G>A |