Linked Data
dbSNP Id:
rs748068863
ExAC:
2:26415180 C / T
gnomAD v2:
2-26415180-C-T
gnomAD v4:
2-26192311-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26192311C>T , CM000664.2:g.26192311C>T | GRCh38 |
| NC_000002.11:g.26415180C>T , CM000664.1:g.26415180C>T | GRCh37 |
| NC_000002.10:g.26268684C>T | NCBI36 |
| NG_007121.1:g.57310G>A | |
| NG_007121.2:g.57311G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1999G>A (HADHA) MANE Select | ENSP00000370023.3:p.Val667Ile | |
| ENST00000492433.2:c.1999G>A (HADHA) | ENSP00000438039.2:p.Val667Ile | |
| ENST00000643057.1:c.*1890G>A (HADHA) | ENSP00000493761.1:n.*1890G>A | |
| ENST00000643063.1:c.*1045G>A (HADHA) | ENSP00000495353.1:n.*1045G>A | |
| ENST00000643233.1:c.*1890G>A (HADHA) | ENSP00000493880.1:n.*1890G>A | |
| ENST00000644428.1:c.*623G>A (HADHA) | ENSP00000495560.1:n.*623G>A | |
| ENST00000645274.1:c.1894G>A (HADHA) | ENSP00000493996.1:p.Val632Ile | |
| ENST00000646031.1:c.1358G>A (HADHA) | ||
| ENST00000646483.1:c.1865G>A (HADHA) | ENSP00000496185.1:n.1865G>A | |
| ENST00000380649.7:c.1999G>A (HADHA) | ENSP00000370023.3:p.Val667Ile | |
| ENST00000492433.1:c.457G>A (HADHA) | ENSP00000438039.1:p.Val153Ile | |
| NM_000182.4:c.1999G>A (HADHA) | NP_000173.2:p.Val667Ile | |
| XM_011532567.1:c.1683+4996C>T (GAREM2) | XP_011530869.1:n.1683+4996C>T | |
| XM_011532567.3:c.1683+4996C>T (GAREM2) | XP_011530869.1:n.1683+4996C>T | |
| NM_000182.5:c.1999G>A (HADHA) MANE Select | NP_000173.2:p.Val667Ile |