Linked Data
ClinVar Variation Id:
1283817
ClinVar RCV Id:
RCV001691857
dbSNP Id:
rs2248720
gnomAD v2:
21-36232156-C-A
gnomAD v3:
21-34859859-C-A
gnomAD v4:
21-34859859-C-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34859859C>A , CM000683.2:g.34859859C>A | GRCh38 |
| NC_000021.8:g.36232156C>A , CM000683.1:g.36232156C>A | GRCh37 |
| NC_000021.7:g.35154026C>A | NCBI36 |
| NG_011402.2:g.1129853G>T , LRG_482:g.1129853G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.509-281G>T MANE Select | ENSP00000501943.1:n.509-281G>T | |
| ENST00000300305.7:c.509-281G>T | ENSP00000300305.3:n.509-281G>T | |
| ENST00000344691.8:c.428-281G>T | ENSP00000340690.4:n.428-281G>T | |
| ENST00000358356.9:c.428-281G>T | ENSP00000351123.5:n.428-281G>T | |
| ENST00000399237.6:c.473-281G>T | ENSP00000382182.2:n.473-281G>T | |
| ENST00000399240.5:c.428-281G>T | ENSP00000382184.1:n.428-281G>T | |
| ENST00000437180.5:c.509-281G>T | ENSP00000409227.1:n.509-281G>T | |
| ENST00000482318.5:c.*99-281G>T | ENSP00000477067.1:n.*99-281G>T | |
| NM_001001890.2:c.428-281G>T | NP_001001890.1:n.428-281G>T | |
| NM_001122607.1:c.428-281G>T | NP_001116079.1:n.428-281G>T | |
| NM_001754.4:c.509-281G>T , LRG_482t1:c.509-281G>T | NP_001745.2:n.509-281G>T | |
| XM_005261068.3:c.473-281G>T | XP_005261125.1:n.473-281G>T | |
| XM_005261069.3:c.509-281G>T | XP_005261126.1:n.509-281G>T | |
| XM_011529766.1:c.509-281G>T | XP_011528068.1:n.509-281G>T | |
| XM_011529767.1:c.470-281G>T | XP_011528069.1:n.470-281G>T | |
| XM_011529768.1:c.470-281G>T | XP_011528070.1:n.470-281G>T | |
| XM_011529770.1:c.509-281G>T | XP_011528072.1:n.509-281G>T | |
| XR_937576.1:n.688-281G>T | ||
| XM_005261069.4:c.509-281G>T | XP_005261126.1:n.509-281G>T | |
| XM_011529766.2:c.509-281G>T | XP_011528068.1:n.509-281G>T | |
| XM_011529767.2:c.470-281G>T | XP_011528069.1:n.470-281G>T | |
| XM_011529768.2:c.470-281G>T | XP_011528070.1:n.470-281G>T | |
| XM_011529770.2:c.509-281G>T | XP_011528072.1:n.509-281G>T | |
| XM_017028487.1:c.356-281G>T | XP_016883976.1:n.356-281G>T | |
| XR_937576.2:n.735-281G>T | ||
| NM_001001890.3:c.428-281G>T | NP_001001890.1:n.428-281G>T | |
| NM_001122607.2:c.428-281G>T | NP_001116079.1:n.428-281G>T | |
| NM_001754.5:c.509-281G>T MANE Select | NP_001745.2:n.509-281G>T |