Linked Data
ClinVar Variation Id:
546
ClinVar RCV Id:
RCV000000576
dbSNP Id:
rs137853188
gnomAD v4:
11-72106185-C-G
PubMed:
PMID:18794526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72106185C>G , CM000673.2:g.72106185C>G | GRCh38 |
| NC_000011.9:g.71817231C>G , CM000673.1:g.71817231C>G | GRCh37 |
| NC_000011.8:g.71494879C>G | NCBI36 |
| NG_021423.1:g.30850C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541899.3:c.234C>G (TOMT) MANE Select | ENSP00000494667.1:p.Tyr78Ter | |
| ENST00000541899.2:c.234C>G (TOMT) | ENSP00000494667.1:p.Tyr78Ter | |
| ENST00000643715.1:c.438-2420C>G (LRTOMT) | ENSP00000496019.1:n.438-2420C>G | |
| ENST00000646163.1:c.*52C>G (LRTOMT) | ENSP00000494749.1:n.*52C>G | |
| ENST00000307198.11:c.333C>G (LRRC51) | ENSP00000305742.7:p.Tyr111Ter | |
| ENST00000419228.2:c.213C>G (LRRC51) | ENSP00000392233.2:p.Tyr71Ter | |
| ENST00000427369.6:c.*52C>G (LRRC51) | ENSP00000409403.2:n.*52C>G | |
| ENST00000435085.5:c.333C>G (LRRC51) | ENSP00000409789.1:p.Tyr111Ter | |
| ENST00000439209.5:c.438-2420C>G (LRRC51) | ENSP00000395139.1:n.438-2420C>G | |
| ENST00000541899.1:n.391C>G (LRRC51) | ||
| ENST00000544409.5:c.*52C>G (LRRC51) | ENSP00000440969.1:n.*52C>G | |
| NM_001145308.4:c.333C>G (LRTOMT) | NP_001138780.1:p.Tyr111Ter | |
| NM_001145309.3:c.333C>G (LRTOMT) | NP_001138781.1:p.Tyr111Ter | |
| NM_001145310.3:c.213C>G (LRTOMT) | NP_001138782.1:p.Tyr71Ter | |
| XM_011544849.1:c.558C>G (LRTOMT) | XP_011543151.1:p.Tyr186Ter | |
| XM_024448401.1:c.558C>G (LRTOMT) | XP_024304169.1:p.Tyr186Ter | |
| NM_001145308.5:c.333C>G (LRTOMT) | NP_001138780.1:p.Tyr111Ter | |
| NM_001145309.4:c.333C>G (LRTOMT) | NP_001138781.1:p.Tyr111Ter | |
| NM_001145310.4:c.213C>G (LRTOMT) | NP_001138782.1:p.Tyr71Ter | |
| NM_001393500.1:c.234C>G (TOMT) | NP_001380429.1:p.Tyr78Ter | |
| NM_001393500.2:c.234C>G (TOMT) MANE Select | NP_001380429.1:p.Tyr78Ter |