Linked Data
ClinVar Variation Id:
2951511
ClinVar RCV Id:
RCV003805213
dbSNP Id:
rs768065156
ExAC:
2:26420546 T / A
gnomAD v2:
2-26420546-T-A
gnomAD v4:
2-26197677-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26197677T>A , CM000664.2:g.26197677T>A | GRCh38 |
| NC_000002.11:g.26420546T>A , CM000664.1:g.26420546T>A | GRCh37 |
| NC_000002.10:g.26274050T>A | NCBI36 |
| NG_007121.1:g.51944A>T | |
| NG_007121.2:g.51945A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1479+14A>T (HADHA) MANE Select | ENSP00000370023.3:n.1479+14A>T | |
| ENST00000492433.2:c.1479+14A>T (HADHA) | ENSP00000438039.2:n.1479+14A>T | |
| ENST00000643057.1:c.*1370+14A>T (HADHA) | ENSP00000493761.1:n.*1370+14A>T | |
| ENST00000643063.1:c.*525+14A>T (HADHA) | ENSP00000495353.1:n.*525+14A>T | |
| ENST00000643233.1:c.*1370+14A>T (HADHA) | ENSP00000493880.1:n.*1370+14A>T | |
| ENST00000644428.1:c.*103+14A>T (HADHA) | ENSP00000495560.1:n.*103+14A>T | |
| ENST00000645274.1:c.1374+14A>T (HADHA) | ENSP00000493996.1:n.1374+14A>T | |
| ENST00000646031.1:c.838+14A>T (HADHA) | ||
| ENST00000646483.1:c.1345+14A>T (HADHA) | ENSP00000496185.1:n.1345+14A>T | |
| ENST00000380649.7:c.1479+14A>T (HADHA) | ENSP00000370023.3:n.1479+14A>T | |
| NM_000182.4:c.1479+14A>T (HADHA) | NP_000173.2:n.1479+14A>T | |
| XM_011532567.1:c.1684-4556T>A (GAREM2) | XP_011530869.1:n.1684-4556T>A | |
| XM_011532567.3:c.1684-4556T>A (GAREM2) | XP_011530869.1:n.1684-4556T>A | |
| NM_000182.5:c.1479+14A>T (HADHA) MANE Select | NP_000173.2:n.1479+14A>T |