Linked Data
dbSNP Id:
rs531593487
ExAC:
2:26418063 C / T
gnomAD v2:
2-26418063-C-T
gnomAD v3:
2-26195194-C-T
gnomAD v4:
2-26195194-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26195194C>T , CM000664.2:g.26195194C>T | GRCh38 |
| NC_000002.11:g.26418063C>T , CM000664.1:g.26418063C>T | GRCh37 |
| NC_000002.10:g.26271567C>T | NCBI36 |
| NG_007121.1:g.54427G>A | |
| NG_007121.2:g.54428G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1518G>A (HADHA) MANE Select | ENSP00000370023.3:p.Met506Ile | |
| ENST00000492433.2:c.1518G>A (HADHA) | ENSP00000438039.2:p.Met506Ile | |
| ENST00000643057.1:c.*1409G>A (HADHA) | ENSP00000493761.1:n.*1409G>A | |
| ENST00000643063.1:c.*564G>A (HADHA) | ENSP00000495353.1:n.*564G>A | |
| ENST00000643233.1:c.*1409G>A (HADHA) | ENSP00000493880.1:n.*1409G>A | |
| ENST00000644428.1:c.*142G>A (HADHA) | ENSP00000495560.1:n.*142G>A | |
| ENST00000645274.1:c.1413G>A (HADHA) | ENSP00000493996.1:p.Met471Ile | |
| ENST00000646031.1:c.877G>A (HADHA) | ||
| ENST00000646483.1:c.1384G>A (HADHA) | ENSP00000496185.1:n.1384G>A | |
| ENST00000380649.7:c.1518G>A (HADHA) | ENSP00000370023.3:p.Met506Ile | |
| NM_000182.4:c.1518G>A (HADHA) | NP_000173.2:p.Met506Ile | |
| XM_011532567.1:c.1684-7039C>T (GAREM2) | XP_011530869.1:n.1684-7039C>T | |
| XM_011532567.3:c.1684-7039C>T (GAREM2) | XP_011530869.1:n.1684-7039C>T | |
| NM_000182.5:c.1518G>A (HADHA) MANE Select | NP_000173.2:p.Met506Ile |