Linked Data
ClinVar Variation Id:
883668
ClinVar RCV Id:
RCV001114279
dbSNP Id:
rs1042068599
gnomAD v3:
11-72080785-T-C
gnomAD v4:
11-72080785-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72080785T>C , CM000673.2:g.72080785T>C | GRCh38 |
| NC_000011.9:g.71791831T>C , CM000673.1:g.71791831T>C | GRCh37 |
| NC_000011.8:g.71469479T>C | NCBI36 |
| NG_021423.1:g.5450T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289488.7:c.-240T>C (LRRC51) | ENSP00000289488.2:n.-240T>C | |
| ENST00000535883.6:c.-140+23T>C (LRRC51) | ENSP00000437561.1:n.-140+23T>C | |
| ENST00000538413.6:c.-156T>C (LRRC51) | ENSP00000438762.2:n.-156T>C | |
| ENST00000539271.6:c.-333+23T>C (LRRC51) | ENSP00000442267.2:n.-333+23T>C | |
| ENST00000642510.1:c.-433T>C (LRRC51) | ENSP00000496544.1:n.-433T>C | |
| ENST00000642648.1:c.-140+23T>C (LRRC51) | ENSP00000494362.1:n.-140+23T>C | |
| ENST00000642813.1:n.220T>C (LRRC51) | ||
| ENST00000646163.1:c.-433T>C (LRTOMT) | ENSP00000494749.1:n.-433T>C | |
| ENST00000647530.1:c.-403T>C (LRRC51) | ENSP00000494072.1:n.-403T>C | |
| ENST00000289488.6:c.-240T>C (LRRC51) | ENSP00000289488.2:n.-240T>C | |
| ENST00000307198.11:c.-422T>C (LRRC51) | ENSP00000305742.7:n.-422T>C | |
| ENST00000412777.6:n.9T>C (LRRC51) | ||
| ENST00000535883.5:c.-240T>C (LRRC51) | ENSP00000437561.1:n.-240T>C | |
| ENST00000538413.5:c.-140+23T>C (LRRC51) | ENSP00000438762.1:n.-140+23T>C | |
| ENST00000539271.5:c.-422T>C (LRRC51) | ENSP00000442267.1:n.-422T>C | |
| NM_001145307.4:c.-240T>C (LRTOMT) | NP_001138779.1:n.-240T>C | |
| NM_001145308.4:c.-422T>C (LRTOMT) | NP_001138780.1:n.-422T>C | |
| NM_001145309.3:c.-643T>C (LRTOMT) | NP_001138781.1:n.-643T>C | |
| NM_001145310.3:c.-643T>C (LRTOMT) | NP_001138782.1:n.-643T>C | |
| NM_001205138.3:c.-157T>C (LRTOMT) | NP_001192067.1:n.-157T>C | |
| NM_001271471.2:c.-240T>C (LRTOMT) | NP_001258400.1:n.-240T>C | |
| NM_145309.5:c.-240T>C (LRTOMT) | NP_660352.1:n.-240T>C | |
| NR_026886.3:n.455T>C (LRTOMT) | ||
| XM_006718472.2:c.-197T>C (LRTOMT) | XP_006718535.1:n.-197T>C | |
| XM_006718473.2:c.-140+23T>C (LRTOMT) | XP_006718536.1:n.-140+23T>C | |
| XM_006718474.2:c.-156T>C (LRTOMT) | XP_006718537.1:n.-156T>C | |
| XM_011544847.1:c.-345T>C (LRTOMT) | XP_011543149.1:n.-345T>C | |
| XM_011544848.1:c.-403T>C (LRTOMT) | XP_011543150.1:n.-403T>C | |
| NM_001318803.1:c.-197T>C (LRTOMT) | NP_001305732.1:n.-197T>C | |
| NR_134858.1:n.455T>C (LRTOMT) | ||
| XM_006718473.4:c.-140+23T>C (LRTOMT) | XP_006718536.1:n.-140+23T>C | |
| XM_006718474.4:c.-156T>C (LRTOMT) | XP_006718537.1:n.-156T>C | |
| XM_011544848.3:c.-403T>C (LRTOMT) | XP_011543150.1:n.-403T>C |