Linked Data
ClinVar Variation Id:
1260410
ClinVar RCV Id:
RCV001669228
dbSNP Id:
rs2018329
gnomAD v2:
21-36193871-T-C
gnomAD v3:
21-34821574-T-C
gnomAD v4:
21-34821574-T-C
ERepo:
CA14892082/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34821574T>C , CM000683.2:g.34821574T>C | GRCh38 |
| NC_000021.8:g.36193871T>C , CM000683.1:g.36193871T>C | GRCh37 |
| NC_000021.7:g.35115741T>C | NCBI36 |
| NG_011402.2:g.1168138A>G , LRG_482:g.1168138A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.805+12836A>G MANE Select | ENSP00000501943.1:n.805+12836A>G | |
| ENST00000300305.7:c.805+12836A>G | ENSP00000300305.3:n.805+12836A>G | |
| ENST00000344691.8:c.724+12836A>G | ENSP00000340690.4:n.724+12836A>G | |
| ENST00000358356.9:c.*94A>G | ENSP00000351123.5:n.*94A>G | |
| ENST00000399240.5:c.533-22112A>G | ENSP00000382184.1:n.533-22112A>G | |
| ENST00000437180.5:c.805+12836A>G | ENSP00000409227.1:n.805+12836A>G | |
| ENST00000479325.1:n.242A>G | ||
| ENST00000482318.5:c.*395+12836A>G | ENSP00000477067.1:n.*395+12836A>G | |
| NM_001001890.2:c.724+12836A>G | NP_001001890.1:n.724+12836A>G | |
| NM_001122607.1:c.*94A>G | NP_001116079.1:n.*94A>G | |
| NM_001754.4:c.805+12836A>G , LRG_482t1:c.805+12836A>G | NP_001745.2:n.805+12836A>G | |
| XM_005261068.3:c.769+12836A>G | XP_005261125.1:n.769+12836A>G | |
| XM_005261069.3:c.614-22112A>G | XP_005261126.1:n.614-22112A>G | |
| XM_011529766.1:c.805+12836A>G | XP_011528068.1:n.805+12836A>G | |
| XM_011529767.1:c.766+12836A>G | XP_011528069.1:n.766+12836A>G | |
| XM_011529768.1:c.575-22112A>G | XP_011528070.1:n.575-22112A>G | |
| XM_011529770.1:c.*94A>G | XP_011528072.1:n.*94A>G | |
| XR_937576.1:n.984+12836A>G | ||
| XM_005261069.4:c.614-22112A>G | XP_005261126.1:n.614-22112A>G | |
| XM_011529766.2:c.805+12836A>G | XP_011528068.1:n.805+12836A>G | |
| XM_011529767.2:c.766+12836A>G | XP_011528069.1:n.766+12836A>G | |
| XM_011529768.2:c.575-22112A>G | XP_011528070.1:n.575-22112A>G | |
| XM_011529770.2:c.*94A>G | XP_011528072.1:n.*94A>G | |
| XM_017028487.1:c.652+12836A>G | XP_016883976.1:n.652+12836A>G | |
| XR_937576.2:n.1031+12836A>G | ||
| NM_001001890.3:c.724+12836A>G | NP_001001890.1:n.724+12836A>G | |
| NM_001122607.2:c.*94A>G | NP_001116079.1:n.*94A>G | |
| NM_001754.5:c.805+12836A>G MANE Select | NP_001745.2:n.805+12836A>G |