Linked Data
ClinVar Variation Id:
1479898
ClinVar RCV Id:
RCV001991084
dbSNP Id:
rs1669530829
gnomAD v4:
2-26192316-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26192316G>A , CM000664.2:g.26192316G>A | GRCh38 |
| NC_000002.11:g.26415185G>A , CM000664.1:g.26415185G>A | GRCh37 |
| NC_000002.10:g.26268689G>A | NCBI36 |
| NG_007121.1:g.57305C>T | |
| NG_007121.2:g.57306C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1994C>T (HADHA) MANE Select | ENSP00000370023.3:p.Ser665Phe | |
| ENST00000492433.2:c.1994C>T (HADHA) | ENSP00000438039.2:p.Ser665Phe | |
| ENST00000643057.1:c.*1885C>T (HADHA) | ENSP00000493761.1:n.*1885C>T | |
| ENST00000643063.1:c.*1040C>T (HADHA) | ENSP00000495353.1:n.*1040C>T | |
| ENST00000643233.1:c.*1885C>T (HADHA) | ENSP00000493880.1:n.*1885C>T | |
| ENST00000644428.1:c.*618C>T (HADHA) | ENSP00000495560.1:n.*618C>T | |
| ENST00000645274.1:c.1889C>T (HADHA) | ENSP00000493996.1:p.Ser630Phe | |
| ENST00000646031.1:c.1353C>T (HADHA) | ||
| ENST00000646483.1:c.1860C>T (HADHA) | ENSP00000496185.1:n.1860C>T | |
| ENST00000380649.7:c.1994C>T (HADHA) | ENSP00000370023.3:p.Ser665Phe | |
| ENST00000492433.1:c.452C>T (HADHA) | ENSP00000438039.1:p.Ser151Phe | |
| NM_000182.4:c.1994C>T (HADHA) | NP_000173.2:p.Ser665Phe | |
| XM_011532567.1:c.1683+5001G>A (GAREM2) | XP_011530869.1:n.1683+5001G>A | |
| XM_011532567.3:c.1683+5001G>A (GAREM2) | XP_011530869.1:n.1683+5001G>A | |
| NM_000182.5:c.1994C>T (HADHA) MANE Select | NP_000173.2:p.Ser665Phe |