Linked Data
dbSNP Id:
rs562724139
ExAC:
2:26414159 G / C
gnomAD v2:
2-26414159-G-C
gnomAD v4:
2-26191290-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191290G>C , CM000664.2:g.26191290G>C | GRCh38 |
| NC_000002.11:g.26414159G>C , CM000664.1:g.26414159G>C | GRCh37 |
| NC_000002.10:g.26267663G>C | NCBI36 |
| NG_007121.1:g.58331C>G | |
| NG_007121.2:g.58332C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.2252C>G (HADHA) MANE Select | ENSP00000370023.3:p.Ala751Gly | |
| ENST00000492433.2:c.2339C>G (HADHA) | ENSP00000438039.2:p.Ala780Gly | |
| ENST00000643057.1:c.*2230C>G (HADHA) | ENSP00000493761.1:n.*2230C>G | |
| ENST00000643063.1:c.*1298C>G (HADHA) | ENSP00000495353.1:n.*1298C>G | |
| ENST00000643233.1:c.*2143C>G (HADHA) | ENSP00000493880.1:n.*2143C>G | |
| ENST00000644428.1:c.*876C>G (HADHA) | ENSP00000495560.1:n.*876C>G | |
| ENST00000645274.1:c.2147C>G (HADHA) | ENSP00000493996.1:p.Ala716Gly | |
| ENST00000646031.1:c.1611C>G (HADHA) | ||
| ENST00000646483.1:c.2118C>G (HADHA) | ENSP00000496185.1:n.2118C>G | |
| ENST00000380649.7:c.2252C>G (HADHA) | ENSP00000370023.3:p.Ala751Gly | |
| NM_000182.4:c.2252C>G (HADHA) | NP_000173.2:p.Ala751Gly | |
| XM_011532567.1:c.1683+3975G>C (GAREM2) | XP_011530869.1:n.1683+3975G>C | |
| XM_011532567.3:c.1683+3975G>C (GAREM2) | XP_011530869.1:n.1683+3975G>C | |
| NM_000182.5:c.2252C>G (HADHA) MANE Select | NP_000173.2:p.Ala751Gly |