Linked Data
ClinVar Variation Id:
438640
ClinVar RCV Id:
RCV000505526
dbSNP Id:
rs539962457
gnomAD v2:
11-74204660-A-G
gnomAD v3:
11-74493615-A-G
gnomAD v4:
11-74493615-A-G
PubMed:
PMID:28757203
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74493615A>G , CM000673.2:g.74493615A>G | GRCh38 |
| NC_000011.9:g.74204660A>G , CM000673.1:g.74204660A>G | GRCh37 |
| NC_000011.8:g.73882308A>G | NCBI36 |
| NG_051333.1:g.5099T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310109.5:c.89T>C (LIPT2) MANE Select | ENSP00000309463.4:p.Leu30Pro | |
| ENST00000310109.4:c.89T>C (LIPT2) | ENSP00000309463.4:p.Leu30Pro | |
| ENST00000528085.1:c.33T>C (LIPT2) | ||
| NM_001144869.1:c.89T>C (LIPT2) | NP_001138341.1:p.Leu30Pro | |
| XM_011545021.1:c.89T>C (LIPT2) | XP_011543323.1:p.Leu30Pro | |
| XR_132892.1:n.176A>G (LIPT2-AS1) | ||
| NM_001144869.2:c.89T>C (LIPT2) | NP_001138341.1:p.Leu30Pro | |
| NM_001319240.1:c.-616A>G (LIPT2-AS1) | NP_001306169.1:n.-616A>G | |
| NM_001329941.1:c.89T>C (LIPT2) | NP_001316870.1:p.Leu30Pro | |
| NM_001329942.1:c.89T>C (LIPT2) | NP_001316871.1:p.Leu30Pro | |
| NM_001144869.3:c.89T>C (LIPT2) MANE Select | NP_001138341.1:p.Leu30Pro | |
| NM_001329941.2:c.89T>C (LIPT2) | NP_001316870.1:p.Leu30Pro | |
| NM_001329942.2:c.89T>C (LIPT2) | NP_001316871.1:p.Leu30Pro | |
| NR_171028.1:n.236A>G (LIPT2-AS1) |