Linked Data
ClinVar Variation Id:
532663
dbSNP Id:
rs780999703
ExAC:
21:36206844 T / C
gnomAD v2:
21-36206844-T-C
gnomAD v3:
21-34834547-T-C
gnomAD v4:
21-34834547-T-C
COSMIC:
COSM24766
ERepo:
CA10014381/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34834547T>C , CM000683.2:g.34834547T>C | GRCh38 |
| NC_000021.8:g.36206844T>C , CM000683.1:g.36206844T>C | GRCh37 |
| NC_000021.7:g.35128714T>C | NCBI36 |
| NG_011402.2:g.1155165A>G , LRG_482:g.1155165A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.668A>G MANE Select | ENSP00000501943.1:p.Glu223Gly | |
| ENST00000300305.7:c.668A>G | ENSP00000300305.3:p.Glu223Gly | |
| ENST00000344691.8:c.587A>G | ENSP00000340690.4:p.Glu196Gly | |
| ENST00000358356.9:c.587A>G | ENSP00000351123.5:p.Glu196Gly | |
| ENST00000399237.6:c.632A>G | ENSP00000382182.2:p.Glu211Gly | |
| ENST00000399240.5:c.532+24927A>G | ENSP00000382184.1:n.532+24927A>G | |
| ENST00000437180.5:c.668A>G | ENSP00000409227.1:p.Glu223Gly | |
| ENST00000469087.1:n.204A>G | ||
| ENST00000482318.5:c.*258A>G | ENSP00000477067.1:n.*258A>G | |
| NM_001001890.2:c.587A>G | NP_001001890.1:p.Glu196Gly | |
| NM_001122607.1:c.587A>G | NP_001116079.1:p.Glu196Gly | |
| NM_001754.4:c.668A>G , LRG_482t1:c.668A>G | NP_001745.2:p.Glu223Gly | |
| XM_005261068.3:c.632A>G | XP_005261125.1:p.Glu211Gly | |
| XM_005261069.3:c.613+24927A>G | XP_005261126.1:n.613+24927A>G | |
| XM_011529766.1:c.668A>G | XP_011528068.1:p.Glu223Gly | |
| XM_011529767.1:c.629A>G | XP_011528069.1:p.Glu210Gly | |
| XM_011529768.1:c.574+24927A>G | XP_011528070.1:n.574+24927A>G | |
| XM_011529770.1:c.668A>G | XP_011528072.1:p.Glu223Gly | |
| XR_937576.1:n.847A>G | ||
| XM_005261069.4:c.613+24927A>G | XP_005261126.1:n.613+24927A>G | |
| XM_011529766.2:c.668A>G | XP_011528068.1:p.Glu223Gly | |
| XM_011529767.2:c.629A>G | XP_011528069.1:p.Glu210Gly | |
| XM_011529768.2:c.574+24927A>G | XP_011528070.1:n.574+24927A>G | |
| XM_011529770.2:c.668A>G | XP_011528072.1:p.Glu223Gly | |
| XM_017028487.1:c.515A>G | XP_016883976.1:p.Glu172Gly | |
| XR_937576.2:n.894A>G | ||
| NM_001001890.3:c.587A>G | NP_001001890.1:p.Glu196Gly | |
| NM_001122607.2:c.587A>G | NP_001116079.1:p.Glu196Gly | |
| NM_001754.5:c.668A>G MANE Select | NP_001745.2:p.Glu223Gly |