Linked Data
ClinVar Variation Id:
2080602
ClinVar RCV Id:
RCV003002050
dbSNP Id:
rs1669492430
gnomAD v3:
2-26191357-T-C
gnomAD v4:
2-26191357-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191357T>C , CM000664.2:g.26191357T>C | GRCh38 |
| NC_000002.11:g.26414226T>C , CM000664.1:g.26414226T>C | GRCh37 |
| NC_000002.10:g.26267730T>C | NCBI36 |
| NG_007121.1:g.58264A>G | |
| NG_007121.2:g.58265A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.2185A>G (HADHA) MANE Select | ENSP00000370023.3:p.Ile729Val | |
| ENST00000492433.2:c.2272A>G (HADHA) | ENSP00000438039.2:p.Ile758Val | |
| ENST00000643057.1:c.*2163A>G (HADHA) | ENSP00000493761.1:n.*2163A>G | |
| ENST00000643063.1:c.*1231A>G (HADHA) | ENSP00000495353.1:n.*1231A>G | |
| ENST00000643233.1:c.*2076A>G (HADHA) | ENSP00000493880.1:n.*2076A>G | |
| ENST00000644428.1:c.*809A>G (HADHA) | ENSP00000495560.1:n.*809A>G | |
| ENST00000645274.1:c.2080A>G (HADHA) | ENSP00000493996.1:p.Ile694Val | |
| ENST00000646031.1:c.1544A>G (HADHA) | ||
| ENST00000646483.1:c.2051A>G (HADHA) | ENSP00000496185.1:n.2051A>G | |
| ENST00000380649.7:c.2185A>G (HADHA) | ENSP00000370023.3:p.Ile729Val | |
| ENST00000492433.1:c.730A>G (HADHA) | ENSP00000438039.1:p.Ile244Val | |
| NM_000182.4:c.2185A>G (HADHA) | NP_000173.2:p.Ile729Val | |
| XM_011532567.1:c.1683+4042T>C (GAREM2) | XP_011530869.1:n.1683+4042T>C | |
| XM_011532567.3:c.1683+4042T>C (GAREM2) | XP_011530869.1:n.1683+4042T>C | |
| NM_000182.5:c.2185A>G (HADHA) MANE Select | NP_000173.2:p.Ile729Val |