Linked Data
ClinVar Variation Id:
258180
dbSNP Id:
rs13051066
ExAC:
21:36164405 G / T
gnomAD v2:
21-36164405-G-T
gnomAD v3:
21-34792108-G-T
gnomAD v4:
21-34792108-G-T
ERepo:
CA10014168/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792108G>T , CM000683.2:g.34792108G>T | GRCh38 |
| NC_000021.8:g.36164405G>T , CM000683.1:g.36164405G>T | GRCh37 |
| NC_000021.7:g.35086275G>T | NCBI36 |
| NG_011402.2:g.1197604C>A , LRG_482:g.1197604C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.*27C>A MANE Select | ENSP00000501943.1:n.*27C>A | |
| ENST00000300305.7:c.*27C>A | ENSP00000300305.3:n.*27C>A | |
| ENST00000344691.8:c.*27C>A | ENSP00000340690.4:n.*27C>A | |
| ENST00000399240.5:c.*27C>A | ENSP00000382184.1:n.*27C>A | |
| ENST00000437180.5:c.*27C>A | ENSP00000409227.1:n.*27C>A | |
| ENST00000482318.5:c.*1060C>A | ENSP00000477067.1:n.*1060C>A | |
| NM_001001890.2:c.*27C>A | NP_001001890.1:n.*27C>A | |
| NM_001754.4:c.*27C>A , LRG_482t1:c.*27C>A | NP_001745.2:n.*27C>A | |
| XM_005261068.3:c.*27C>A | XP_005261125.1:n.*27C>A | |
| XM_005261069.3:c.*27C>A | XP_005261126.1:n.*27C>A | |
| XM_011529766.1:c.*27C>A | XP_011528068.1:n.*27C>A | |
| XM_011529767.1:c.*27C>A | XP_011528069.1:n.*27C>A | |
| XM_011529768.1:c.*27C>A | XP_011528070.1:n.*27C>A | |
| XM_005261069.4:c.*27C>A | XP_005261126.1:n.*27C>A | |
| XM_011529766.2:c.*27C>A | XP_011528068.1:n.*27C>A | |
| XM_011529767.2:c.*27C>A | XP_011528069.1:n.*27C>A | |
| XM_011529768.2:c.*27C>A | XP_011528070.1:n.*27C>A | |
| XM_017028487.1:c.*27C>A | XP_016883976.1:n.*27C>A | |
| NM_001001890.3:c.*27C>A | NP_001001890.1:n.*27C>A | |
| NM_001754.5:c.*27C>A MANE Select | NP_001745.2:n.*27C>A |