Linked Data
dbSNP Id:
rs1013625442
gnomAD v2:
11-71791869-T-C
gnomAD v3:
11-72080823-T-C
gnomAD v4:
11-72080823-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72080823T>C , CM000673.2:g.72080823T>C | GRCh38 |
| NC_000011.9:g.71791869T>C , CM000673.1:g.71791869T>C | GRCh37 |
| NC_000011.8:g.71469517T>C | NCBI36 |
| NG_021423.1:g.5488T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289488.7:c.-202T>C (LRRC51) | ENSP00000289488.2:n.-202T>C | |
| ENST00000535883.6:c.-140+61T>C (LRRC51) | ENSP00000437561.1:n.-140+61T>C | |
| ENST00000538413.6:c.-118T>C (LRRC51) | ENSP00000438762.2:n.-118T>C | |
| ENST00000539271.6:c.-333+61T>C (LRRC51) | ENSP00000442267.2:n.-333+61T>C | |
| ENST00000642510.1:c.-395T>C (LRRC51) | ENSP00000496544.1:n.-395T>C | |
| ENST00000642648.1:c.-140+61T>C (LRRC51) | ENSP00000494362.1:n.-140+61T>C | |
| ENST00000642813.1:n.258T>C (LRRC51) | ||
| ENST00000646163.1:c.-395T>C (LRTOMT) | ENSP00000494749.1:n.-395T>C | |
| ENST00000647530.1:c.-365T>C (LRRC51) | ENSP00000494072.1:n.-365T>C | |
| ENST00000289488.6:c.-202T>C (LRRC51) | ENSP00000289488.2:n.-202T>C | |
| ENST00000307198.11:c.-384T>C (LRRC51) | ENSP00000305742.7:n.-384T>C | |
| ENST00000412777.6:n.47T>C (LRRC51) | ||
| ENST00000423494.6:c.-119T>C (LRRC51) | ENSP00000441249.1:n.-119T>C | |
| ENST00000535883.5:c.-202T>C (LRRC51) | ENSP00000437561.1:n.-202T>C | |
| ENST00000538413.5:c.-140+61T>C (LRRC51) | ENSP00000438762.1:n.-140+61T>C | |
| ENST00000539271.5:c.-384T>C (LRRC51) | ENSP00000442267.1:n.-384T>C | |
| NM_001145307.4:c.-202T>C (LRTOMT) | NP_001138779.1:n.-202T>C | |
| NM_001145308.4:c.-384T>C (LRTOMT) | NP_001138780.1:n.-384T>C | |
| NM_001145309.3:c.-605T>C (LRTOMT) | NP_001138781.1:n.-605T>C | |
| NM_001145310.3:c.-605T>C (LRTOMT) | NP_001138782.1:n.-605T>C | |
| NM_001205138.3:c.-119T>C (LRTOMT) | NP_001192067.1:n.-119T>C | |
| NM_001271471.2:c.-202T>C (LRTOMT) | NP_001258400.1:n.-202T>C | |
| NM_145309.5:c.-202T>C (LRTOMT) | NP_660352.1:n.-202T>C | |
| NR_026886.3:n.493T>C (LRTOMT) | ||
| XM_006718472.2:c.-159T>C (LRTOMT) | XP_006718535.1:n.-159T>C | |
| XM_006718473.2:c.-140+61T>C (LRTOMT) | XP_006718536.1:n.-140+61T>C | |
| XM_006718474.2:c.-118T>C (LRTOMT) | XP_006718537.1:n.-118T>C | |
| XM_011544847.1:c.-307T>C (LRTOMT) | XP_011543149.1:n.-307T>C | |
| XM_011544848.1:c.-365T>C (LRTOMT) | XP_011543150.1:n.-365T>C | |
| NM_001318803.1:c.-159T>C (LRTOMT) | NP_001305732.1:n.-159T>C | |
| NR_134858.1:n.493T>C (LRTOMT) | ||
| XM_006718473.4:c.-140+61T>C (LRTOMT) | XP_006718536.1:n.-140+61T>C | |
| XM_006718474.4:c.-118T>C (LRTOMT) | XP_006718537.1:n.-118T>C | |
| XM_011544847.3:c.-307T>C (LRTOMT) | XP_011543149.1:n.-307T>C | |
| XM_011544848.3:c.-365T>C (LRTOMT) | XP_011543150.1:n.-365T>C |