Linked Data
ClinVar Variation Id:
14280
ClinVar RCV Id:
RCV000015350
dbSNP Id:
rs121913579
gnomAD v2:
1-237048502-C-G
gnomAD v4:
1-236885202-C-G
PubMed:
PMID:8968737
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236885202C>G , CM000663.2:g.236885202C>G | GRCh38 |
| NC_000001.10:g.237048502C>G , CM000663.1:g.237048502C>G | GRCh37 |
| NC_000001.9:g.235115125C>G | NCBI36 |
| NG_008959.1:g.94922C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366577.10:c.2758C>G MANE Select | ENSP00000355536.5:p.His920Asp | |
| ENST00000535889.6:c.2605C>G | ENSP00000441845.1:p.His869Asp | |
| ENST00000650888.1:c.*1800C>G | ENSP00000498393.1:n.*1800C>G | |
| ENST00000651455.1:c.*1502C>G | ENSP00000498963.1:n.*1502C>G | |
| ENST00000674797.2:c.2410C>G | ENSP00000502299.2:p.His804Asp | |
| ENST00000679569.1:n.3072C>G | ||
| ENST00000679842.1:c.2569C>G | ENSP00000506109.1:p.His857Asp | |
| ENST00000680454.1:n.3202C>G | ||
| ENST00000681102.1:c.2578C>G | ENSP00000505600.1:p.His860Asp | |
| ENST00000681177.1:c.2320C>G | ENSP00000506327.1:p.His774Asp | |
| ENST00000681937.1:n.2952C>G | ||
| ENST00000366576.3:c.1420C>G | ENSP00000355535.3:p.His474Asp | |
| ENST00000366577.9:c.2758C>G | ENSP00000355536.5:p.His920Asp | |
| ENST00000535889.5:c.2605C>G | ENSP00000441845.1:p.His869Asp | |
| NM_000254.2:c.2758C>G | NP_000245.2:p.His920Asp | |
| NM_001291939.1:c.2605C>G | NP_001278868.1:p.His869Asp | |
| NM_001291940.1:c.1537C>G | NP_001278869.1:p.His513Asp | |
| XM_005273141.3:c.2755C>G | XP_005273198.1:p.His919Asp | |
| XM_006711769.2:c.2758C>G | XP_006711832.1:p.His920Asp | |
| XM_006711770.1:c.1822C>G | XP_006711833.1:p.His608Asp | |
| XM_011544193.1:c.2569C>G | XP_011542495.1:p.His857Asp | |
| XM_011544194.1:c.2926C>G | XP_011542496.1:p.His976Asp | |
| XM_005273141.5:c.2755C>G | XP_005273198.1:p.His919Asp | |
| XM_006711770.3:c.1822C>G | XP_006711833.1:p.His608Asp | |
| XM_011544194.3:c.2926C>G | XP_011542496.1:p.His976Asp | |
| XM_017001329.2:c.2773C>G | XP_016856818.1:p.His925Asp | |
| XM_017001330.2:c.2737C>G | XP_016856819.1:p.His913Asp | |
| NM_001291940.2:c.1537C>G | NP_001278869.1:p.His513Asp | |
| NM_000254.3:c.2758C>G MANE Select | NP_000245.2:p.His920Asp |