Linked Data
ClinVar Variation Id:
2164512
dbSNP Id:
rs763333426
ExAC:
2:26418043 G / A
gnomAD v2:
2-26418043-G-A
gnomAD v3:
2-26195174-G-A
gnomAD v4:
2-26195174-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26195174G>A , CM000664.2:g.26195174G>A | GRCh38 |
| NC_000002.11:g.26418043G>A , CM000664.1:g.26418043G>A | GRCh37 |
| NC_000002.10:g.26271547G>A | NCBI36 |
| NG_007121.1:g.54447C>T | |
| NG_007121.2:g.54448C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1538C>T (HADHA) MANE Select | ENSP00000370023.3:p.Thr513Met | |
| ENST00000492433.2:c.1538C>T (HADHA) | ENSP00000438039.2:p.Thr513Met | |
| ENST00000643057.1:c.*1429C>T (HADHA) | ENSP00000493761.1:n.*1429C>T | |
| ENST00000643063.1:c.*584C>T (HADHA) | ENSP00000495353.1:n.*584C>T | |
| ENST00000643233.1:c.*1429C>T (HADHA) | ENSP00000493880.1:n.*1429C>T | |
| ENST00000644428.1:c.*162C>T (HADHA) | ENSP00000495560.1:n.*162C>T | |
| ENST00000645274.1:c.1433C>T (HADHA) | ENSP00000493996.1:p.Thr478Met | |
| ENST00000646031.1:c.897C>T (HADHA) | ||
| ENST00000646483.1:c.1404C>T (HADHA) | ENSP00000496185.1:n.1404C>T | |
| ENST00000380649.7:c.1538C>T (HADHA) | ENSP00000370023.3:p.Thr513Met | |
| NM_000182.4:c.1538C>T (HADHA) | NP_000173.2:p.Thr513Met | |
| XM_011532567.1:c.1684-7059G>A (GAREM2) | XP_011530869.1:n.1684-7059G>A | |
| XM_011532567.3:c.1684-7059G>A (GAREM2) | XP_011530869.1:n.1684-7059G>A | |
| NM_000182.5:c.1538C>T (HADHA) MANE Select | NP_000173.2:p.Thr513Met |