Linked Data
ClinVar Variation Id:
1706260
ClinVar RCV Id:
RCV002284790
dbSNP Id:
rs1239074836
gnomAD v2:
11-71817166-G-C
gnomAD v3:
11-72106120-G-C
gnomAD v4:
11-72106120-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72106120G>C , CM000673.2:g.72106120G>C | GRCh38 |
| NC_000011.9:g.71817166G>C , CM000673.1:g.71817166G>C | GRCh37 |
| NC_000011.8:g.71494814G>C | NCBI36 |
| NG_021423.1:g.30785G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541899.3:c.169G>C (TOMT) MANE Select | ENSP00000494667.1:p.Ala57Pro | |
| ENST00000541899.2:c.169G>C (TOMT) | ENSP00000494667.1:p.Ala57Pro | |
| ENST00000643715.1:c.438-2485G>C (LRTOMT) | ENSP00000496019.1:n.438-2485G>C | |
| ENST00000646163.1:c.137G>C (LRTOMT) | ENSP00000494749.1:p.Cys46Ser | |
| ENST00000307198.11:c.268G>C (LRRC51) | ENSP00000305742.7:p.Ala90Pro | |
| ENST00000419228.2:c.148G>C (LRRC51) | ENSP00000392233.2:p.Ala50Pro | |
| ENST00000427369.6:c.671G>C (LRRC51) | ENSP00000409403.2:p.Cys224Ser | |
| ENST00000435085.5:c.268G>C (LRRC51) | ENSP00000409789.1:p.Ala90Pro | |
| ENST00000439209.5:c.438-2485G>C (LRRC51) | ENSP00000395139.1:n.438-2485G>C | |
| ENST00000541899.1:n.326G>C (LRRC51) | ||
| ENST00000544409.5:c.551G>C (LRRC51) | ENSP00000440969.1:p.Cys184Ser | |
| NM_001145308.4:c.268G>C (LRTOMT) | NP_001138780.1:p.Ala90Pro | |
| NM_001145309.3:c.268G>C (LRTOMT) | NP_001138781.1:p.Ala90Pro | |
| NM_001145310.3:c.148G>C (LRTOMT) | NP_001138782.1:p.Ala50Pro | |
| XM_011544849.1:c.493G>C (LRTOMT) | XP_011543151.1:p.Ala165Pro | |
| XM_024448401.1:c.493G>C (LRTOMT) | XP_024304169.1:p.Ala165Pro | |
| NM_001145308.5:c.268G>C (LRTOMT) | NP_001138780.1:p.Ala90Pro | |
| NM_001145309.4:c.268G>C (LRTOMT) | NP_001138781.1:p.Ala90Pro | |
| NM_001145310.4:c.148G>C (LRTOMT) | NP_001138782.1:p.Ala50Pro | |
| NM_001393500.1:c.169G>C (TOMT) | NP_001380429.1:p.Ala57Pro | |
| NM_001393500.2:c.169G>C (TOMT) MANE Select | NP_001380429.1:p.Ala57Pro |