Linked Data
ClinVar Variation Id:
296155
ClinVar RCV Id:
RCV000391873
dbSNP Id:
rs143135847
gnomAD v2:
1-231500370-A-C
gnomAD v3:
1-231364624-A-C
gnomAD v4:
1-231364624-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231364624A>C , CM000663.2:g.231364624A>C | GRCh38 |
| NC_000001.10:g.231500370A>C , CM000663.1:g.231500370A>C | GRCh37 |
| NC_000001.9:g.229566993A>C | NCBI36 |
| NG_015865.1:g.65421T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366641.4:c.*1787T>G (EGLN1) MANE Select | ENSP00000355601.3:n.*1787T>G | |
| ENST00000653198.1:n.2610T>G | ||
| ENST00000653908.1:c.*1893T>G | ENSP00000499669.1:n.*1893T>G | |
| ENST00000667629.1:c.2235T>G (EGLN1) | ENSP00000499629.1:n.2235T>G | |
| ENST00000366641.3:c.*1787T>G (EGLN1) | ENSP00000355601.3:n.*1787T>G | |
| NM_022051.2:c.*1787T>G (EGLN1) | NP_071334.1:n.*1787T>G | |
| XM_005273166.3:c.*1848T>G (EGLN1) | XP_005273223.1:n.*1848T>G | |
| XM_005273167.3:c.*1893T>G (EGLN1) | XP_005273224.1:n.*1893T>G | |
| XM_005273284.2:c.734-4930A>C (SPRTN) | XP_005273341.1:n.734-4930A>C | |
| XM_005273285.2:c.719-4930A>C (SPRTN) | XP_005273342.1:n.719-4930A>C | |
| XM_005273167.5:c.*1893T>G (EGLN1) | XP_005273224.1:n.*1893T>G | |
| XR_001738520.2:n.2277+3237A>C | ||
| NM_001377260.1:c.*1848T>G (EGLN1) | NP_001364189.1:n.*1848T>G | |
| NM_001377261.1:c.*1893T>G (EGLN1) | NP_001364190.1:n.*1893T>G | |
| NM_022051.3:c.*1787T>G (EGLN1) MANE Select | NP_071334.1:n.*1787T>G |