Linked Data
ClinVar Variation Id:
1670117
ClinVar RCV Id:
RCV002201296
dbSNP Id:
rs374503588
ExAC:
2:26414377 C / G
gnomAD v2:
2-26414377-C-G
gnomAD v3:
2-26191508-C-G
gnomAD v4:
2-26191508-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191508C>G , CM000664.2:g.26191508C>G | GRCh38 |
| NC_000002.11:g.26414377C>G , CM000664.1:g.26414377C>G | GRCh37 |
| NC_000002.10:g.26267881C>G | NCBI36 |
| NG_007121.1:g.58113G>C | |
| NG_007121.2:g.58114G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.2121G>C (HADHA) MANE Select | ENSP00000370023.3:p.Gly707= | |
| ENST00000492433.2:c.2121G>C (HADHA) | ENSP00000438039.2:p.Gly707= | |
| ENST00000643057.1:c.*2012G>C (HADHA) | ENSP00000493761.1:n.*2012G>C | |
| ENST00000643063.1:c.*1167G>C (HADHA) | ENSP00000495353.1:n.*1167G>C | |
| ENST00000643233.1:c.*2012G>C (HADHA) | ENSP00000493880.1:n.*2012G>C | |
| ENST00000644428.1:c.*745G>C (HADHA) | ENSP00000495560.1:n.*745G>C | |
| ENST00000645274.1:c.2016G>C (HADHA) | ENSP00000493996.1:p.Gly672= | |
| ENST00000646031.1:c.1480G>C (HADHA) | ||
| ENST00000646483.1:c.1987G>C (HADHA) | ENSP00000496185.1:n.1987G>C | |
| ENST00000380649.7:c.2121G>C (HADHA) | ENSP00000370023.3:p.Gly707= | |
| ENST00000492433.1:c.579G>C (HADHA) | ENSP00000438039.1:p.Gly193= | |
| NM_000182.4:c.2121G>C (HADHA) | NP_000173.2:p.Gly707= | |
| XM_011532567.1:c.1683+4193C>G (GAREM2) | XP_011530869.1:n.1683+4193C>G | |
| XM_011532567.3:c.1683+4193C>G (GAREM2) | XP_011530869.1:n.1683+4193C>G | |
| NM_000182.5:c.2121G>C (HADHA) MANE Select | NP_000173.2:p.Gly707= |