Linked Data
ClinVar Variation Id:
808703
ClinVar RCV Id:
RCV000997085
dbSNP Id:
rs1352427438
gnomAD v3:
2-26191261-A-G
gnomAD v4:
2-26191261-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191261A>G , CM000664.2:g.26191261A>G | GRCh38 |
| NC_000002.11:g.26414130A>G , CM000664.1:g.26414130A>G | GRCh37 |
| NC_000002.10:g.26267634A>G | NCBI36 |
| NG_007121.1:g.58360T>C | |
| NG_007121.2:g.58361T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.2281T>C (HADHA) MANE Select | ENSP00000370023.3:p.Phe761Leu | |
| ENST00000492433.2:c.2368T>C (HADHA) | ENSP00000438039.2:p.Phe790Leu | |
| ENST00000643057.1:c.*2259T>C (HADHA) | ENSP00000493761.1:n.*2259T>C | |
| ENST00000643063.1:c.*1327T>C (HADHA) | ENSP00000495353.1:n.*1327T>C | |
| ENST00000643233.1:c.*2172T>C (HADHA) | ENSP00000493880.1:n.*2172T>C | |
| ENST00000644428.1:c.*905T>C (HADHA) | ENSP00000495560.1:n.*905T>C | |
| ENST00000645274.1:c.2176T>C (HADHA) | ENSP00000493996.1:p.Phe726Leu | |
| ENST00000646031.1:c.1640T>C (HADHA) | ||
| ENST00000646483.1:c.2147T>C (HADHA) | ENSP00000496185.1:n.2147T>C | |
| ENST00000380649.7:c.2281T>C (HADHA) | ENSP00000370023.3:p.Phe761Leu | |
| NM_000182.4:c.2281T>C (HADHA) | NP_000173.2:p.Phe761Leu | |
| XM_011532567.1:c.1683+3946A>G (GAREM2) | XP_011530869.1:n.1683+3946A>G | |
| XM_011532567.3:c.1683+3946A>G (GAREM2) | XP_011530869.1:n.1683+3946A>G | |
| NM_000182.5:c.2281T>C (HADHA) MANE Select | NP_000173.2:p.Phe761Leu |