Linked Data
ClinVar Variation Id:
1368249
ClinVar RCV Id:
RCV001867408
dbSNP Id:
rs766188621
ExAC:
2:26415254 C / A
gnomAD v2:
2-26415254-C-A
gnomAD v3:
2-26192385-C-A
gnomAD v4:
2-26192385-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26192385C>A , CM000664.2:g.26192385C>A | GRCh38 |
| NC_000002.11:g.26415254C>A , CM000664.1:g.26415254C>A | GRCh37 |
| NC_000002.10:g.26268758C>A | NCBI36 |
| NG_007121.1:g.57236G>T | |
| NG_007121.2:g.57237G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1925G>T (HADHA) MANE Select | ENSP00000370023.3:p.Gly642Val | |
| ENST00000492433.2:c.1925G>T (HADHA) | ENSP00000438039.2:p.Gly642Val | |
| ENST00000643057.1:c.*1816G>T (HADHA) | ENSP00000493761.1:n.*1816G>T | |
| ENST00000643063.1:c.*971G>T (HADHA) | ENSP00000495353.1:n.*971G>T | |
| ENST00000643233.1:c.*1816G>T (HADHA) | ENSP00000493880.1:n.*1816G>T | |
| ENST00000644428.1:c.*549G>T (HADHA) | ENSP00000495560.1:n.*549G>T | |
| ENST00000645274.1:c.1820G>T (HADHA) | ENSP00000493996.1:p.Gly607Val | |
| ENST00000646031.1:c.1284G>T (HADHA) | ||
| ENST00000646483.1:c.1791G>T (HADHA) | ENSP00000496185.1:n.1791G>T | |
| ENST00000380649.7:c.1925G>T (HADHA) | ENSP00000370023.3:p.Gly642Val | |
| ENST00000492433.1:c.383G>T (HADHA) | ENSP00000438039.1:p.Gly128Val | |
| NM_000182.4:c.1925G>T (HADHA) | NP_000173.2:p.Gly642Val | |
| XM_011532567.1:c.1683+5070C>A (GAREM2) | XP_011530869.1:n.1683+5070C>A | |
| XM_011532567.3:c.1683+5070C>A (GAREM2) | XP_011530869.1:n.1683+5070C>A | |
| NM_000182.5:c.1925G>T (HADHA) MANE Select | NP_000173.2:p.Gly642Val |