Linked Data
ClinVar Variation Id:
449719
dbSNP Id:
rs1240187200
gnomAD v2:
2-26414384-A-T
gnomAD v3:
2-26191515-A-T
gnomAD v4:
2-26191515-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191515A>T , CM000664.2:g.26191515A>T | GRCh38 |
| NC_000002.11:g.26414384A>T , CM000664.1:g.26414384A>T | GRCh37 |
| NC_000002.10:g.26267888A>T | NCBI36 |
| NG_007121.1:g.58106T>A | |
| NG_007121.2:g.58107T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.2114T>A (HADHA) MANE Select | ENSP00000370023.3:p.Val705Asp | |
| ENST00000492433.2:c.2114T>A (HADHA) | ENSP00000438039.2:p.Val705Asp | |
| ENST00000643057.1:c.*2005T>A (HADHA) | ENSP00000493761.1:n.*2005T>A | |
| ENST00000643063.1:c.*1160T>A (HADHA) | ENSP00000495353.1:n.*1160T>A | |
| ENST00000643233.1:c.*2005T>A (HADHA) | ENSP00000493880.1:n.*2005T>A | |
| ENST00000644428.1:c.*738T>A (HADHA) | ENSP00000495560.1:n.*738T>A | |
| ENST00000645274.1:c.2009T>A (HADHA) | ENSP00000493996.1:p.Val670Asp | |
| ENST00000646031.1:c.1473T>A (HADHA) | ||
| ENST00000646483.1:c.1980T>A (HADHA) | ENSP00000496185.1:n.1980T>A | |
| ENST00000380649.7:c.2114T>A (HADHA) | ENSP00000370023.3:p.Val705Asp | |
| ENST00000492433.1:c.572T>A (HADHA) | ENSP00000438039.1:p.Val191Asp | |
| NM_000182.4:c.2114T>A (HADHA) | NP_000173.2:p.Val705Asp | |
| XM_011532567.1:c.1683+4200A>T (GAREM2) | XP_011530869.1:n.1683+4200A>T | |
| XM_011532567.3:c.1683+4200A>T (GAREM2) | XP_011530869.1:n.1683+4200A>T | |
| NM_000182.5:c.2114T>A (HADHA) MANE Select | NP_000173.2:p.Val705Asp |