Linked Data
ClinVar Variation Id:
296177
ClinVar RCV Id:
RCV000336401
dbSNP Id:
rs886046106
gnomAD v4:
1-231365876-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231365876A>C , CM000663.2:g.231365876A>C | GRCh38 |
| NC_000001.10:g.231501622A>C , CM000663.1:g.231501622A>C | GRCh37 |
| NC_000001.9:g.229568245A>C | NCBI36 |
| NG_015865.1:g.64169T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366641.4:c.*535T>G (EGLN1) MANE Select | ENSP00000355601.3:n.*535T>G | |
| ENST00000653198.1:n.1358T>G | ||
| ENST00000653908.1:c.*641T>G | ENSP00000499669.1:n.*641T>G | |
| ENST00000667629.1:c.983T>G (EGLN1) | ENSP00000499629.1:n.983T>G | |
| ENST00000366641.3:c.*535T>G (EGLN1) | ENSP00000355601.3:n.*535T>G | |
| NM_022051.2:c.*535T>G (EGLN1) | NP_071334.1:n.*535T>G | |
| XM_005273166.3:c.*596T>G (EGLN1) | XP_005273223.1:n.*596T>G | |
| XM_005273167.3:c.*641T>G (EGLN1) | XP_005273224.1:n.*641T>G | |
| XM_005273284.2:c.734-3678A>C (SPRTN) | XP_005273341.1:n.734-3678A>C | |
| XM_005273285.2:c.719-3678A>C (SPRTN) | XP_005273342.1:n.719-3678A>C | |
| XM_005273166.5:c.*596T>G (EGLN1) | XP_005273223.1:n.*596T>G | |
| XM_005273167.5:c.*641T>G (EGLN1) | XP_005273224.1:n.*641T>G | |
| XR_001738520.2:n.2278-3678A>C | ||
| NM_001377260.1:c.*596T>G (EGLN1) | NP_001364189.1:n.*596T>G | |
| NM_001377261.1:c.*641T>G (EGLN1) | NP_001364190.1:n.*641T>G | |
| NM_022051.3:c.*535T>G (EGLN1) MANE Select | NP_071334.1:n.*535T>G |