Linked Data
ClinVar Variation Id:
1978367
ClinVar RCV Id:
RCV002775036
dbSNP Id:
rs1388044439
gnomAD v2:
4-44683201-T-G
gnomAD v3:
4-44681184-T-G
gnomAD v4:
4-44681184-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.44681184T>G , CM000666.2:g.44681184T>G | GRCh38 |
| NC_000004.11:g.44683201T>G , CM000666.1:g.44683201T>G | GRCh37 |
| NC_000004.10:g.44377958T>G | NCBI36 |
| NG_051569.1:g.7790T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281543.6:c.488T>G MANE Select | ENSP00000281543.5:p.Leu163Arg | |
| ENST00000281543.5:c.488T>G | ENSP00000281543.5:p.Leu163Arg | |
| ENST00000506793.5:n.370T>G | ||
| ENST00000513775.1:c.*79T>G | ENSP00000422681.1:n.*79T>G | |
| NM_021927.2:c.488T>G | NP_068746.2:p.Leu163Arg | |
| XM_005248122.2:c.-485T>G | XP_005248179.1:n.-485T>G | |
| XM_011513732.1:c.488T>G | XP_011512034.1:p.Leu163Arg | |
| XM_011513733.1:c.338T>G | XP_011512035.1:p.Leu113Arg | |
| XM_011513734.1:c.488T>G | XP_011512036.1:p.Leu163Arg | |
| NM_001345867.1:c.-481T>G | NP_001332796.1:n.-481T>G | |
| NM_001345868.1:c.488T>G | NP_001332797.1:p.Leu163Arg | |
| NM_001345869.1:c.-485T>G | NP_001332798.1:n.-485T>G | |
| XM_024454178.1:c.338T>G | XP_024309946.1:p.Leu113Arg | |
| NM_021927.3:c.488T>G MANE Select | NP_068746.2:p.Leu163Arg | |
| NM_001345867.2:c.-481T>G | NP_001332796.1:n.-481T>G | |
| NM_001345868.2:c.488T>G | NP_001332797.1:p.Leu163Arg | |
| NM_001345869.2:c.-485T>G | NP_001332798.1:n.-485T>G |