Linked Data
ClinVar Variation Id:
2900996
ClinVar RCV Id:
RCV003729083
dbSNP Id:
rs538769462
ExAC:
4:44680649 C / G
gnomAD v2:
4-44680649-C-G
gnomAD v3:
4-44678632-C-G
gnomAD v4:
4-44678632-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.44678632C>G , CM000666.2:g.44678632C>G | GRCh38 |
| NC_000004.11:g.44680649C>G , CM000666.1:g.44680649C>G | GRCh37 |
| NC_000004.10:g.44375406C>G | NCBI36 |
| NG_051569.1:g.5238C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281543.6:c.10C>G MANE Select | ENSP00000281543.5:p.Leu4Val | |
| ENST00000281543.5:c.10C>G | ENSP00000281543.5:p.Leu4Val | |
| ENST00000506793.5:n.159+47C>G | ||
| ENST00000513775.1:c.10C>G | ENSP00000422681.1:p.Leu4Val | |
| NM_021927.2:c.10C>G | NP_068746.2:p.Leu4Val | |
| XM_005248122.2:c.-851C>G | XP_005248179.1:n.-851C>G | |
| XM_011513732.1:c.10C>G | XP_011512034.1:p.Leu4Val | |
| XM_011513733.1:c.15+47C>G | XP_011512035.1:n.15+47C>G | |
| XM_011513734.1:c.10C>G | XP_011512036.1:p.Leu4Val | |
| NM_001345867.1:c.-959C>G | NP_001332796.1:n.-959C>G | |
| NM_001345868.1:c.10C>G | NP_001332797.1:p.Leu4Val | |
| NM_001345869.1:c.-851C>G | NP_001332798.1:n.-851C>G | |
| XM_024454178.1:c.15+47C>G | XP_024309946.1:n.15+47C>G | |
| NM_021927.3:c.10C>G MANE Select | NP_068746.2:p.Leu4Val | |
| NM_001345867.2:c.-959C>G | NP_001332796.1:n.-959C>G | |
| NM_001345868.2:c.10C>G | NP_001332797.1:p.Leu4Val | |
| NM_001345869.2:c.-851C>G | NP_001332798.1:n.-851C>G |