Linked Data
ClinVar Variation Id:
1193984
ClinVar RCV Id:
RCV001556568
dbSNP Id:
rs1669535287
gnomAD v4:
2-26192418-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26192418T>A , CM000664.2:g.26192418T>A | GRCh38 |
| NC_000002.11:g.26415287T>A , CM000664.1:g.26415287T>A | GRCh37 |
| NC_000002.10:g.26268791T>A | NCBI36 |
| NG_007121.1:g.57203A>T | |
| NG_007121.2:g.57204A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1892A>T (HADHA) MANE Select | ENSP00000370023.3:p.Lys631Ile | |
| ENST00000492433.2:c.1892A>T (HADHA) | ENSP00000438039.2:p.Lys631Ile | |
| ENST00000643057.1:c.*1783A>T (HADHA) | ENSP00000493761.1:n.*1783A>T | |
| ENST00000643063.1:c.*938A>T (HADHA) | ENSP00000495353.1:n.*938A>T | |
| ENST00000643233.1:c.*1783A>T (HADHA) | ENSP00000493880.1:n.*1783A>T | |
| ENST00000644428.1:c.*516A>T (HADHA) | ENSP00000495560.1:n.*516A>T | |
| ENST00000645274.1:c.1787A>T (HADHA) | ENSP00000493996.1:p.Lys596Ile | |
| ENST00000646031.1:c.1251A>T (HADHA) | ||
| ENST00000646483.1:c.1758A>T (HADHA) | ENSP00000496185.1:n.1758A>T | |
| ENST00000380649.7:c.1892A>T (HADHA) | ENSP00000370023.3:p.Lys631Ile | |
| ENST00000492433.1:c.350A>T (HADHA) | ENSP00000438039.1:p.Lys117Ile | |
| NM_000182.4:c.1892A>T (HADHA) | NP_000173.2:p.Lys631Ile | |
| XM_011532567.1:c.1683+5103T>A (GAREM2) | XP_011530869.1:n.1683+5103T>A | |
| XM_011532567.3:c.1683+5103T>A (GAREM2) | XP_011530869.1:n.1683+5103T>A | |
| NM_000182.5:c.1892A>T (HADHA) MANE Select | NP_000173.2:p.Lys631Ile |