Linked Data
dbSNP Id:
rs770961702
ExAC:
2:26417966 C / T
gnomAD v2:
2-26417966-C-T
gnomAD v3:
2-26195097-C-T
gnomAD v4:
2-26195097-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26195097C>T , CM000664.2:g.26195097C>T | GRCh38 |
| NC_000002.11:g.26417966C>T , CM000664.1:g.26417966C>T | GRCh37 |
| NC_000002.10:g.26271470C>T | NCBI36 |
| NG_007121.1:g.54524G>A | |
| NG_007121.2:g.54525G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1615G>A (HADHA) MANE Select | ENSP00000370023.3:p.Val539Ile | |
| ENST00000492433.2:c.1615G>A (HADHA) | ENSP00000438039.2:p.Val539Ile | |
| ENST00000643057.1:c.*1506G>A (HADHA) | ENSP00000493761.1:n.*1506G>A | |
| ENST00000643063.1:c.*661G>A (HADHA) | ENSP00000495353.1:n.*661G>A | |
| ENST00000643233.1:c.*1506G>A (HADHA) | ENSP00000493880.1:n.*1506G>A | |
| ENST00000644428.1:c.*239G>A (HADHA) | ENSP00000495560.1:n.*239G>A | |
| ENST00000645274.1:c.1510G>A (HADHA) | ENSP00000493996.1:p.Val504Ile | |
| ENST00000646031.1:c.974G>A (HADHA) | ||
| ENST00000646483.1:c.1481G>A (HADHA) | ENSP00000496185.1:n.1481G>A | |
| ENST00000380649.7:c.1615G>A (HADHA) | ENSP00000370023.3:p.Val539Ile | |
| ENST00000492433.1:c.73G>A (HADHA) | ENSP00000438039.1:p.Val25Ile | |
| NM_000182.4:c.1615G>A (HADHA) | NP_000173.2:p.Val539Ile | |
| XM_011532567.1:c.1684-7136C>T (GAREM2) | XP_011530869.1:n.1684-7136C>T | |
| XM_011532567.3:c.1684-7136C>T (GAREM2) | XP_011530869.1:n.1684-7136C>T | |
| NM_000182.5:c.1615G>A (HADHA) MANE Select | NP_000173.2:p.Val539Ile |