Linked Data
dbSNP Id:
rs766506078
ExAC:
2:26414244 G / C
gnomAD v2:
2-26414244-G-C
gnomAD v3:
2-26191375-G-C
gnomAD v4:
2-26191375-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191375G>C , CM000664.2:g.26191375G>C | GRCh38 |
| NC_000002.11:g.26414244G>C , CM000664.1:g.26414244G>C | GRCh37 |
| NC_000002.10:g.26267748G>C | NCBI36 |
| NG_007121.1:g.58246C>G | |
| NG_007121.2:g.58247C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.2167C>G (HADHA) MANE Select | ENSP00000370023.3:p.Leu723Val | |
| ENST00000492433.2:c.2254C>G (HADHA) | ENSP00000438039.2:p.Leu752Val | |
| ENST00000643057.1:c.*2145C>G (HADHA) | ENSP00000493761.1:n.*2145C>G | |
| ENST00000643063.1:c.*1213C>G (HADHA) | ENSP00000495353.1:n.*1213C>G | |
| ENST00000643233.1:c.*2058C>G (HADHA) | ENSP00000493880.1:n.*2058C>G | |
| ENST00000644428.1:c.*791C>G (HADHA) | ENSP00000495560.1:n.*791C>G | |
| ENST00000645274.1:c.2062C>G (HADHA) | ENSP00000493996.1:p.Leu688Val | |
| ENST00000646031.1:c.1526C>G (HADHA) | ||
| ENST00000646483.1:c.2033C>G (HADHA) | ENSP00000496185.1:n.2033C>G | |
| ENST00000380649.7:c.2167C>G (HADHA) | ENSP00000370023.3:p.Leu723Val | |
| ENST00000492433.1:c.712C>G (HADHA) | ENSP00000438039.1:p.Leu238Val | |
| NM_000182.4:c.2167C>G (HADHA) | NP_000173.2:p.Leu723Val | |
| XM_011532567.1:c.1683+4060G>C (GAREM2) | XP_011530869.1:n.1683+4060G>C | |
| XM_011532567.3:c.1683+4060G>C (GAREM2) | XP_011530869.1:n.1683+4060G>C | |
| NM_000182.5:c.2167C>G (HADHA) MANE Select | NP_000173.2:p.Leu723Val |