Linked Data
ClinVar Variation Id:
339822
ClinVar RCV Id:
RCV000278568
dbSNP Id:
rs74950917
gnomAD v2:
21-36161664-T-G
gnomAD v3:
21-34789367-T-G
gnomAD v4:
21-34789367-T-G
MyVariant Identifiers:
chr21:g.36161664T>G (hg19)
chr21:g.36161664_36161668delinsGAGTG (hg19)
chr21:g.34789367T>G (hg38)
chr21:g.34789367_34789371delinsGAGTG (hg38)
ERepo:
CA10653554/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34789367T>G , CM000683.2:g.34789367T>G | GRCh38 |
| NC_000021.8:g.36161664T>G , CM000683.1:g.36161664T>G | GRCh37 |
| NC_000021.7:g.35083534T>G | NCBI36 |
| NG_011402.2:g.1200345A>C , LRG_482:g.1200345A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.*2768A>C MANE Select | ENSP00000501943.1:n.*2768A>C | |
| ENST00000300305.7:c.*2768A>C | ENSP00000300305.3:n.*2768A>C | |
| ENST00000344691.8:c.*2768A>C | ENSP00000340690.4:n.*2768A>C | |
| ENST00000437180.5:c.*2768A>C | ENSP00000409227.1:n.*2768A>C | |
| NM_001001890.2:c.*2768A>C | NP_001001890.1:n.*2768A>C | |
| NM_001754.4:c.*2768A>C , LRG_482t1:c.*2768A>C | NP_001745.2:n.*2768A>C | |
| XM_005261068.3:c.*2768A>C | XP_005261125.1:n.*2768A>C | |
| XM_005261069.3:c.*2768A>C | XP_005261126.1:n.*2768A>C | |
| XM_011529766.1:c.*2768A>C | XP_011528068.1:n.*2768A>C | |
| XM_011529767.1:c.*2768A>C | XP_011528069.1:n.*2768A>C | |
| XM_011529768.1:c.*2768A>C | XP_011528070.1:n.*2768A>C | |
| XM_005261069.4:c.*2768A>C | XP_005261126.1:n.*2768A>C | |
| XM_011529766.2:c.*2768A>C | XP_011528068.1:n.*2768A>C | |
| XM_011529767.2:c.*2768A>C | XP_011528069.1:n.*2768A>C | |
| XM_011529768.2:c.*2768A>C | XP_011528070.1:n.*2768A>C | |
| XM_017028487.1:c.*2768A>C | XP_016883976.1:n.*2768A>C | |
| NM_001001890.3:c.*2768A>C | NP_001001890.1:n.*2768A>C | |
| NM_001754.5:c.*2768A>C MANE Select | NP_001745.2:n.*2768A>C |