Linked Data
dbSNP Id:
rs772943800
ExAC:
2:26424067 A / G
gnomAD v2:
2-26424067-A-G
gnomAD v4:
2-26201198-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26201198A>G , CM000664.2:g.26201198A>G | GRCh38 |
| NC_000002.11:g.26424067A>G , CM000664.1:g.26424067A>G | GRCh37 |
| NC_000002.10:g.26277571A>G | NCBI36 |
| NG_007121.1:g.48423T>C | |
| NG_007121.2:g.48424T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1343T>C (HADHA) MANE Select | ENSP00000370023.3:p.Val448Ala | |
| ENST00000492433.2:c.1343T>C (HADHA) | ENSP00000438039.2:p.Val448Ala | |
| ENST00000643057.1:c.*1234T>C (HADHA) | ENSP00000493761.1:n.*1234T>C | |
| ENST00000643063.1:c.*389T>C (HADHA) | ENSP00000495353.1:n.*389T>C | |
| ENST00000643233.1:c.*1234T>C (HADHA) | ENSP00000493880.1:n.*1234T>C | |
| ENST00000644428.1:c.1343T>C (HADHA) | ENSP00000495560.1:p.Val448Ala | |
| ENST00000645274.1:c.1238T>C (HADHA) | ENSP00000493996.1:p.Val413Ala | |
| ENST00000646031.1:c.702T>C (HADHA) | ||
| ENST00000646483.1:c.1209T>C (HADHA) | ENSP00000496185.1:n.1209T>C | |
| ENST00000380649.7:c.1343T>C (HADHA) | ENSP00000370023.3:p.Val448Ala | |
| NM_000182.4:c.1343T>C (HADHA) | NP_000173.2:p.Val448Ala | |
| XM_011532567.1:c.1684-1035A>G (GAREM2) | XP_011530869.1:n.1684-1035A>G | |
| XM_011532567.3:c.1684-1035A>G (GAREM2) | XP_011530869.1:n.1684-1035A>G | |
| NM_000182.5:c.1343T>C (HADHA) MANE Select | NP_000173.2:p.Val448Ala |