Linked Data
dbSNP Id:
rs1053184367
gnomAD v2:
11-71791765-A-C
gnomAD v3:
11-72080719-A-C
gnomAD v4:
11-72080719-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72080719A>C , CM000673.2:g.72080719A>C | GRCh38 |
| NC_000011.9:g.71791765A>C , CM000673.1:g.71791765A>C | GRCh37 |
| NC_000011.8:g.71469413A>C | NCBI36 |
| NG_021423.1:g.5384A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289488.7:c.-306A>C (LRRC51) | ENSP00000289488.2:n.-306A>C | |
| ENST00000535883.6:c.-183A>C (LRRC51) | ENSP00000437561.1:n.-183A>C | |
| ENST00000538413.6:c.-222A>C (LRRC51) | ENSP00000438762.2:n.-222A>C | |
| ENST00000539271.6:c.-376A>C (LRRC51) | ENSP00000442267.2:n.-376A>C | |
| ENST00000642510.1:c.-499A>C (LRRC51) | ENSP00000496544.1:n.-499A>C | |
| ENST00000642648.1:c.-183A>C (LRRC51) | ENSP00000494362.1:n.-183A>C | |
| ENST00000642813.1:n.154A>C (LRRC51) | ||
| ENST00000647530.1:c.-469A>C (LRRC51) | ENSP00000494072.1:n.-469A>C | |
| ENST00000289488.6:c.-306A>C (LRRC51) | ENSP00000289488.2:n.-306A>C | |
| ENST00000307198.11:c.-488A>C (LRRC51) | ENSP00000305742.7:n.-488A>C | |
| ENST00000535883.5:c.-306A>C (LRRC51) | ENSP00000437561.1:n.-306A>C | |
| ENST00000538413.5:c.-183A>C (LRRC51) | ENSP00000438762.1:n.-183A>C | |
| NM_001145307.4:c.-306A>C (LRTOMT) | NP_001138779.1:n.-306A>C | |
| NM_001145308.4:c.-488A>C (LRTOMT) | NP_001138780.1:n.-488A>C | |
| NM_001145309.3:c.-709A>C (LRTOMT) | NP_001138781.1:n.-709A>C | |
| NM_001145310.3:c.-709A>C (LRTOMT) | NP_001138782.1:n.-709A>C | |
| NM_001205138.3:c.-223A>C (LRTOMT) | NP_001192067.1:n.-223A>C | |
| NM_001271471.2:c.-306A>C (LRTOMT) | NP_001258400.1:n.-306A>C | |
| NM_145309.5:c.-306A>C (LRTOMT) | NP_660352.1:n.-306A>C | |
| NR_026886.3:n.389A>C (LRTOMT) | ||
| XM_006718473.2:c.-183A>C (LRTOMT) | XP_006718536.1:n.-183A>C | |
| NM_001318803.1:c.-263A>C (LRTOMT) | NP_001305732.1:n.-263A>C | |
| NR_134858.1:n.389A>C (LRTOMT) | ||
| XM_006718473.4:c.-183A>C (LRTOMT) | XP_006718536.1:n.-183A>C | |
| XM_006718474.4:c.-222A>C (LRTOMT) | XP_006718537.1:n.-222A>C | |
| XM_011544848.3:c.-469A>C (LRTOMT) | XP_011543150.1:n.-469A>C |