Linked Data
ClinVar Variation Id:
347179
ClinVar RCV Id:
RCV000372118
dbSNP Id:
rs77613966
ExAC:
4:110769344 C / G
gnomAD v2:
4-110769344-C-G
gnomAD v3:
4-109848188-C-G
gnomAD v4:
4-109848188-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109848188C>G , CM000666.2:g.109848188C>G | GRCh38 |
| NC_000004.11:g.110769344C>G , CM000666.1:g.110769344C>G | GRCh37 |
| NC_000004.10:g.110988793C>G | NCBI36 |
| NG_033249.1:g.5005C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594814.6:c.-14C>G (LRIT3) MANE Select | ENSP00000469759.1:n.-14C>G | |
| ENST00000652276.1:c.4551C>G (RRH) | ||
| NM_198506.4:c.-14C>G (LRIT3) | NP_940908.3:n.-14C>G | |
| XM_017008168.1:c.-14C>G (LRIT3) | XP_016863657.1:n.-14C>G | |
| NM_198506.5:c.-14C>G (LRIT3) MANE Select | NP_940908.3:n.-14C>G |