Linked Data
ClinVar Variation Id:
1236689
ClinVar RCV Id:
RCV001639204
dbSNP Id:
rs75736994
gnomAD v2:
2-26415108-A-C
gnomAD v3:
2-26192239-A-C
gnomAD v4:
2-26192239-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26192239A>C , CM000664.2:g.26192239A>C | GRCh38 |
| NC_000002.11:g.26415108A>C , CM000664.1:g.26415108A>C | GRCh37 |
| NC_000002.10:g.26268612A>C | NCBI36 |
| NG_007121.1:g.57382T>G | |
| NG_007121.2:g.57383T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.2000+71T>G (HADHA) MANE Select | ENSP00000370023.3:n.2000+71T>G | |
| ENST00000492433.2:c.2000+71T>G (HADHA) | ENSP00000438039.2:n.2000+71T>G | |
| ENST00000643057.1:c.*1891+71T>G (HADHA) | ENSP00000493761.1:n.*1891+71T>G | |
| ENST00000643063.1:c.*1046+71T>G (HADHA) | ENSP00000495353.1:n.*1046+71T>G | |
| ENST00000643233.1:c.*1891+71T>G (HADHA) | ENSP00000493880.1:n.*1891+71T>G | |
| ENST00000644428.1:c.*624+71T>G (HADHA) | ENSP00000495560.1:n.*624+71T>G | |
| ENST00000645274.1:c.1895+71T>G (HADHA) | ENSP00000493996.1:n.1895+71T>G | |
| ENST00000646031.1:c.1359+71T>G (HADHA) | ||
| ENST00000646483.1:c.1866+71T>G (HADHA) | ENSP00000496185.1:n.1866+71T>G | |
| ENST00000380649.7:c.2000+71T>G (HADHA) | ENSP00000370023.3:n.2000+71T>G | |
| ENST00000492433.1:c.458+71T>G (HADHA) | ENSP00000438039.1:n.458+71T>G | |
| NM_000182.4:c.2000+71T>G (HADHA) | NP_000173.2:n.2000+71T>G | |
| XM_011532567.1:c.1683+4924A>C (GAREM2) | XP_011530869.1:n.1683+4924A>C | |
| XM_011532567.3:c.1683+4924A>C (GAREM2) | XP_011530869.1:n.1683+4924A>C | |
| NM_000182.5:c.2000+71T>G (HADHA) MANE Select | NP_000173.2:n.2000+71T>G |