Linked Data
ClinVar Variation Id:
339811
dbSNP Id:
rs144175289
gnomAD v2:
21-36161135-A-G
gnomAD v3:
21-34788838-A-G
gnomAD v4:
21-34788838-A-G
ERepo:
CA10650415/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34788838A>G , CM000683.2:g.34788838A>G | GRCh38 |
| NC_000021.8:g.36161135A>G , CM000683.1:g.36161135A>G | GRCh37 |
| NC_000021.7:g.35083005A>G | NCBI36 |
| NG_011402.2:g.1200874T>C , LRG_482:g.1200874T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.*3297T>C MANE Select | ENSP00000501943.1:n.*3297T>C | |
| ENST00000300305.7:c.*3297T>C | ENSP00000300305.3:n.*3297T>C | |
| ENST00000344691.8:c.*3297T>C | ENSP00000340690.4:n.*3297T>C | |
| ENST00000437180.5:c.*3297T>C | ENSP00000409227.1:n.*3297T>C | |
| NM_001001890.2:c.*3297T>C | NP_001001890.1:n.*3297T>C | |
| NM_001754.4:c.*3297T>C , LRG_482t1:c.*3297T>C | NP_001745.2:n.*3297T>C | |
| XM_005261068.3:c.*3297T>C | XP_005261125.1:n.*3297T>C | |
| XM_005261069.3:c.*3297T>C | XP_005261126.1:n.*3297T>C | |
| XM_011529766.1:c.*3297T>C | XP_011528068.1:n.*3297T>C | |
| XM_011529767.1:c.*3297T>C | XP_011528069.1:n.*3297T>C | |
| XM_011529768.1:c.*3297T>C | XP_011528070.1:n.*3297T>C | |
| XM_005261069.4:c.*3297T>C | XP_005261126.1:n.*3297T>C | |
| XM_011529766.2:c.*3297T>C | XP_011528068.1:n.*3297T>C | |
| XM_011529767.2:c.*3297T>C | XP_011528069.1:n.*3297T>C | |
| XM_011529768.2:c.*3297T>C | XP_011528070.1:n.*3297T>C | |
| XM_017028487.1:c.*3297T>C | XP_016883976.1:n.*3297T>C | |
| NM_001001890.3:c.*3297T>C | NP_001001890.1:n.*3297T>C | |
| NM_001754.5:c.*3297T>C MANE Select | NP_001745.2:n.*3297T>C |