Linked Data
ClinVar Variation Id:
285871
dbSNP Id:
rs137891647
ExAC:
2:99779295 C / G
gnomAD v2:
2-99779295-C-G
gnomAD v3:
2-99162832-C-G
gnomAD v4:
2-99162832-C-G
PubMed:
PMID:24341803
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.99162832C>G , CM000664.2:g.99162832C>G | GRCh38 |
| NC_000002.11:g.99779295C>G , CM000664.1:g.99779295C>G | GRCh37 |
| NC_000002.10:g.99145727C>G | NCBI36 |
| NG_050665.1:g.12878C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651691.1:c.875C>G (LIPT1) MANE Select | ENSP00000498546.1:p.Ser292Ter | |
| ENST00000393471.2:c.875C>G (LIPT1) | ENSP00000377114.2:p.Ser292Ter | |
| ENST00000393473.6:c.875C>G (LIPT1) | ENSP00000377115.2:p.Ser292Ter | |
| ENST00000410042.1:c.-28+6406C>G | ENSP00000387111.1:n.-28+6406C>G | |
| ENST00000422537.6:c.700-614G>C (MITD1) | ENSP00000413371.2:n.700-614G>C | |
| ENST00000424491.5:c.63+12313C>G | ENSP00000390891.1:n.63+12313C>G | |
| ENST00000487588.5:n.241-1164G>C (MITD1) | ||
| NM_001204830.1:c.875C>G (LIPT1) | NP_001191759.1:p.Ser292Ter | |
| NM_015929.3:c.875C>G (LIPT1) | NP_057013.1:p.Ser292Ter | |
| NM_145197.2:c.875C>G (LIPT1) | NP_660198.1:p.Ser292Ter | |
| NM_145198.2:c.875C>G (LIPT1) | NP_660199.1:p.Ser292Ter | |
| NM_145199.2:c.875C>G (LIPT1) | NP_660200.1:p.Ser292Ter | |
| NR_037935.1:n.1360C>G (LIPT1) | ||
| NR_037936.1:n.1036C>G (LIPT1) | ||
| XM_011510581.1:c.730-1164G>C (MITD1) | XP_011508883.1:n.730-1164G>C | |
| XM_011510582.1:c.*2-1164G>C (MITD1) | XP_011508884.1:n.*2-1164G>C | |
| XM_011510583.1:c.451-1164G>C (MITD1) | XP_011508885.1:n.451-1164G>C | |
| XM_011510581.3:c.730-1164G>C (MITD1) | XP_011508883.1:n.730-1164G>C | |
| XM_011510582.3:c.*2-1164G>C (MITD1) | XP_011508884.1:n.*2-1164G>C | |
| XM_017003314.2:c.643-1164G>C (MITD1) | XP_016858803.1:n.643-1164G>C | |
| XR_001738612.1:n.1032-1164G>C (MITD1) | ||
| NM_145199.3:c.875C>G (LIPT1) MANE Select | NP_660200.1:p.Ser292Ter | |
| NM_015929.4:c.875C>G (LIPT1) | NP_057013.1:p.Ser292Ter | |
| NM_145197.3:c.875C>G (LIPT1) | NP_660198.1:p.Ser292Ter | |
| NM_145198.3:c.875C>G (LIPT1) | NP_660199.1:p.Ser292Ter | |
| NR_037936.2:n.1024C>G (LIPT1) | ||
| NM_001204830.2:c.875C>G (LIPT1) | NP_001191759.1:p.Ser292Ter | |
| NR_037935.2:n.1360C>G (LIPT1) |