Linked Data
ClinVar Variation Id:
1499573
dbSNP Id:
rs1004898768
gnomAD v2:
2-26417985-C-G
gnomAD v3:
2-26195116-C-G
gnomAD v4:
2-26195116-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26195116C>G , CM000664.2:g.26195116C>G | GRCh38 |
| NC_000002.11:g.26417985C>G , CM000664.1:g.26417985C>G | GRCh37 |
| NC_000002.10:g.26271489C>G | NCBI36 |
| NG_007121.1:g.54505G>C | |
| NG_007121.2:g.54506G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1596G>C (HADHA) MANE Select | ENSP00000370023.3:p.Gln532His | |
| ENST00000492433.2:c.1596G>C (HADHA) | ENSP00000438039.2:p.Gln532His | |
| ENST00000643057.1:c.*1487G>C (HADHA) | ENSP00000493761.1:n.*1487G>C | |
| ENST00000643063.1:c.*642G>C (HADHA) | ENSP00000495353.1:n.*642G>C | |
| ENST00000643233.1:c.*1487G>C (HADHA) | ENSP00000493880.1:n.*1487G>C | |
| ENST00000644428.1:c.*220G>C (HADHA) | ENSP00000495560.1:n.*220G>C | |
| ENST00000645274.1:c.1491G>C (HADHA) | ENSP00000493996.1:p.Gln497His | |
| ENST00000646031.1:c.955G>C (HADHA) | ||
| ENST00000646483.1:c.1462G>C (HADHA) | ENSP00000496185.1:n.1462G>C | |
| ENST00000380649.7:c.1596G>C (HADHA) | ENSP00000370023.3:p.Gln532His | |
| ENST00000492433.1:c.54G>C (HADHA) | ENSP00000438039.1:p.Gln18His | |
| NM_000182.4:c.1596G>C (HADHA) | NP_000173.2:p.Gln532His | |
| XM_011532567.1:c.1684-7117C>G (GAREM2) | XP_011530869.1:n.1684-7117C>G | |
| XM_011532567.3:c.1684-7117C>G (GAREM2) | XP_011530869.1:n.1684-7117C>G | |
| NM_000182.5:c.1596G>C (HADHA) MANE Select | NP_000173.2:p.Gln532His |