Linked Data
ClinVar Variation Id:
575500
ClinVar RCV Id:
RCV000697732
dbSNP Id:
rs769966051
ExAC:
21:36171709 G / T
gnomAD v2:
21-36171709-G-T
gnomAD v3:
21-34799412-G-T
gnomAD v4:
21-34799412-G-T
ERepo:
CA10014280/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34799412G>T , CM000683.2:g.34799412G>T | GRCh38 |
| NC_000021.8:g.36171709G>T , CM000683.1:g.36171709G>T | GRCh37 |
| NC_000021.7:g.35093579G>T | NCBI36 |
| NG_011402.2:g.1190300C>A , LRG_482:g.1190300C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.856C>A MANE Select | ENSP00000501943.1:p.Gln286Lys | |
| ENST00000300305.7:c.856C>A | ENSP00000300305.3:p.Gln286Lys | |
| ENST00000344691.8:c.775C>A | ENSP00000340690.4:p.Gln259Lys | |
| ENST00000399240.5:c.583C>A | ENSP00000382184.1:p.Gln195Lys | |
| ENST00000437180.5:c.856C>A | ENSP00000409227.1:p.Gln286Lys | |
| ENST00000482318.5:c.*446C>A | ENSP00000477067.1:n.*446C>A | |
| NM_001001890.2:c.775C>A | NP_001001890.1:p.Gln259Lys | |
| NM_001754.4:c.856C>A , LRG_482t1:c.856C>A | NP_001745.2:p.Gln286Lys | |
| XM_005261068.3:c.820C>A | XP_005261125.1:p.Gln274Lys | |
| XM_005261069.3:c.664C>A | XP_005261126.1:p.Gln222Lys | |
| XM_011529766.1:c.856C>A | XP_011528068.1:p.Gln286Lys | |
| XM_011529767.1:c.817C>A | XP_011528069.1:p.Gln273Lys | |
| XM_011529768.1:c.625C>A | XP_011528070.1:p.Gln209Lys | |
| XR_937576.1:n.1035C>A | ||
| XM_005261069.4:c.664C>A | XP_005261126.1:p.Gln222Lys | |
| XM_011529766.2:c.856C>A | XP_011528068.1:p.Gln286Lys | |
| XM_011529767.2:c.817C>A | XP_011528069.1:p.Gln273Lys | |
| XM_011529768.2:c.625C>A | XP_011528070.1:p.Gln209Lys | |
| XM_017028487.1:c.703C>A | XP_016883976.1:p.Gln235Lys | |
| XR_937576.2:n.1082C>A | ||
| NM_001001890.3:c.775C>A | NP_001001890.1:p.Gln259Lys | |
| NM_001754.5:c.856C>A MANE Select | NP_001745.2:p.Gln286Lys |