Linked Data
ClinVar Variation Id:
415832
dbSNP Id:
rs150042294
ExAC:
21:36206814 C / T
gnomAD v2:
21-36206814-C-T
gnomAD v3:
21-34834517-C-T
gnomAD v4:
21-34834517-C-T
ERepo:
CA10014373/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34834517C>T , CM000683.2:g.34834517C>T | GRCh38 |
| NC_000021.8:g.36206814C>T , CM000683.1:g.36206814C>T | GRCh37 |
| NC_000021.7:g.35128684C>T | NCBI36 |
| NG_011402.2:g.1155195G>A , LRG_482:g.1155195G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.698G>A MANE Select | ENSP00000501943.1:p.Arg233His | |
| ENST00000300305.7:c.698G>A | ENSP00000300305.3:p.Arg233His | |
| ENST00000344691.8:c.617G>A | ENSP00000340690.4:p.Arg206His | |
| ENST00000358356.9:c.617G>A | ENSP00000351123.5:p.Arg206His | |
| ENST00000399237.6:c.662G>A | ENSP00000382182.2:p.Arg221His | |
| ENST00000399240.5:c.532+24957G>A | ENSP00000382184.1:n.532+24957G>A | |
| ENST00000437180.5:c.698G>A | ENSP00000409227.1:p.Arg233His | |
| ENST00000469087.1:n.234G>A | ||
| ENST00000482318.5:c.*288G>A | ENSP00000477067.1:n.*288G>A | |
| NM_001001890.2:c.617G>A | NP_001001890.1:p.Arg206His | |
| NM_001122607.1:c.617G>A | NP_001116079.1:p.Arg206His | |
| NM_001754.4:c.698G>A , LRG_482t1:c.698G>A | NP_001745.2:p.Arg233His | |
| XM_005261068.3:c.662G>A | XP_005261125.1:p.Arg221His | |
| XM_005261069.3:c.613+24957G>A | XP_005261126.1:n.613+24957G>A | |
| XM_011529766.1:c.698G>A | XP_011528068.1:p.Arg233His | |
| XM_011529767.1:c.659G>A | XP_011528069.1:p.Arg220His | |
| XM_011529768.1:c.574+24957G>A | XP_011528070.1:n.574+24957G>A | |
| XM_011529770.1:c.698G>A | XP_011528072.1:p.Arg233His | |
| XR_937576.1:n.877G>A | ||
| XM_005261069.4:c.613+24957G>A | XP_005261126.1:n.613+24957G>A | |
| XM_011529766.2:c.698G>A | XP_011528068.1:p.Arg233His | |
| XM_011529767.2:c.659G>A | XP_011528069.1:p.Arg220His | |
| XM_011529768.2:c.574+24957G>A | XP_011528070.1:n.574+24957G>A | |
| XM_011529770.2:c.698G>A | XP_011528072.1:p.Arg233His | |
| XM_017028487.1:c.545G>A | XP_016883976.1:p.Arg182His | |
| XR_937576.2:n.924G>A | ||
| NM_001001890.3:c.617G>A | NP_001001890.1:p.Arg206His | |
| NM_001122607.2:c.617G>A | NP_001116079.1:p.Arg206His | |
| NM_001754.5:c.698G>A MANE Select | NP_001745.2:p.Arg233His |