Linked Data
ClinVar Variation Id:
227534
ClinVar RCV Id:
RCV000222162
dbSNP Id:
rs876657502
gnomAD v2:
11-71817086-C-T
gnomAD v3:
11-72106040-C-T
gnomAD v4:
11-72106040-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72106040C>T , CM000673.2:g.72106040C>T | GRCh38 |
| NC_000011.9:g.71817086C>T , CM000673.1:g.71817086C>T | GRCh37 |
| NC_000011.8:g.71494734C>T | NCBI36 |
| NG_021423.1:g.30705C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541899.3:c.89C>T (TOMT) MANE Select | ENSP00000494667.1:p.Thr30Met | |
| ENST00000541899.2:c.89C>T (TOMT) | ENSP00000494667.1:p.Thr30Met | |
| ENST00000643715.1:c.438-2565C>T (LRTOMT) | ENSP00000496019.1:n.438-2565C>T | |
| ENST00000646163.1:c.73-16C>T (LRTOMT) | ENSP00000494749.1:n.73-16C>T | |
| ENST00000307198.11:c.188C>T (LRRC51) | ENSP00000305742.7:p.Thr63Met | |
| ENST00000419228.2:c.84-16C>T (LRRC51) | ENSP00000392233.2:n.84-16C>T | |
| ENST00000427369.6:c.591C>T (LRRC51) | ENSP00000409403.2:p.His197= | |
| ENST00000435085.5:c.188C>T (LRRC51) | ENSP00000409789.1:p.Thr63Met | |
| ENST00000439209.5:c.438-2565C>T (LRRC51) | ENSP00000395139.1:n.438-2565C>T | |
| ENST00000541899.1:n.246C>T (LRRC51) | ||
| ENST00000544409.5:c.487-16C>T (LRRC51) | ENSP00000440969.1:n.487-16C>T | |
| NM_001145308.4:c.188C>T (LRTOMT) | NP_001138780.1:p.Thr63Met | |
| NM_001145309.3:c.188C>T (LRTOMT) | NP_001138781.1:p.Thr63Met | |
| NM_001145310.3:c.84-16C>T (LRTOMT) | NP_001138782.1:n.84-16C>T | |
| XM_011544849.1:c.413C>T (LRTOMT) | XP_011543151.1:p.Thr138Met | |
| XM_024448401.1:c.413C>T (LRTOMT) | XP_024304169.1:p.Thr138Met | |
| NM_001145308.5:c.188C>T (LRTOMT) | NP_001138780.1:p.Thr63Met | |
| NM_001145309.4:c.188C>T (LRTOMT) | NP_001138781.1:p.Thr63Met | |
| NM_001145310.4:c.84-16C>T (LRTOMT) | NP_001138782.1:n.84-16C>T | |
| NM_001393500.1:c.89C>T (TOMT) | NP_001380429.1:p.Thr30Met | |
| NM_001393500.2:c.89C>T (TOMT) MANE Select | NP_001380429.1:p.Thr30Met |