Linked Data
ClinVar Variation Id:
335373
dbSNP Id:
rs368976628
ExAC:
2:26414272 G / C
gnomAD v2:
2-26414272-G-C
gnomAD v3:
2-26191403-G-C
gnomAD v4:
2-26191403-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191403G>C , CM000664.2:g.26191403G>C | GRCh38 |
| NC_000002.11:g.26414272G>C , CM000664.1:g.26414272G>C | GRCh37 |
| NC_000002.10:g.26267776G>C | NCBI36 |
| NG_007121.1:g.58218C>G | |
| NG_007121.2:g.58219C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.2147-8C>G (HADHA) MANE Select | ENSP00000370023.3:n.2147-8C>G | |
| ENST00000492433.2:c.2226C>G (HADHA) | ENSP00000438039.2:p.Leu742= | |
| ENST00000643057.1:c.*2117C>G (HADHA) | ENSP00000493761.1:n.*2117C>G | |
| ENST00000643063.1:c.*1193-8C>G (HADHA) | ENSP00000495353.1:n.*1193-8C>G | |
| ENST00000643233.1:c.*2038-8C>G (HADHA) | ENSP00000493880.1:n.*2038-8C>G | |
| ENST00000644428.1:c.*771-8C>G (HADHA) | ENSP00000495560.1:n.*771-8C>G | |
| ENST00000645274.1:c.2042-8C>G (HADHA) | ENSP00000493996.1:n.2042-8C>G | |
| ENST00000646031.1:c.1506-8C>G (HADHA) | ||
| ENST00000646483.1:c.2013-8C>G (HADHA) | ENSP00000496185.1:n.2013-8C>G | |
| ENST00000380649.7:c.2147-8C>G (HADHA) | ENSP00000370023.3:n.2147-8C>G | |
| ENST00000492433.1:c.684C>G (HADHA) | ENSP00000438039.1:p.Leu228= | |
| NM_000182.4:c.2147-8C>G (HADHA) | NP_000173.2:n.2147-8C>G | |
| XM_011532567.1:c.1683+4088G>C (GAREM2) | XP_011530869.1:n.1683+4088G>C | |
| XM_011532567.3:c.1683+4088G>C (GAREM2) | XP_011530869.1:n.1683+4088G>C | |
| NM_000182.5:c.2147-8C>G (HADHA) MANE Select | NP_000173.2:n.2147-8C>G |