Linked Data
ClinVar Variation Id:
1494007
ClinVar RCV Id:
RCV002012787
dbSNP Id:
rs773627332
ExAC:
4:44680685 G / A
gnomAD v2:
4-44680685-G-A
gnomAD v3:
4-44678668-G-A
gnomAD v4:
4-44678668-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.44678668G>A , CM000666.2:g.44678668G>A | GRCh38 |
| NC_000004.11:g.44680685G>A , CM000666.1:g.44680685G>A | GRCh37 |
| NC_000004.10:g.44375442G>A | NCBI36 |
| NG_051569.1:g.5274G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281543.6:c.46G>A MANE Select | ENSP00000281543.5:p.Ala16Thr | |
| ENST00000281543.5:c.46G>A | ENSP00000281543.5:p.Ala16Thr | |
| ENST00000506793.5:n.159+83G>A | ||
| ENST00000513775.1:c.46G>A | ENSP00000422681.1:p.Ala16Thr | |
| NM_021927.2:c.46G>A | NP_068746.2:p.Ala16Thr | |
| XM_005248122.2:c.-815G>A | XP_005248179.1:n.-815G>A | |
| XM_011513732.1:c.46G>A | XP_011512034.1:p.Ala16Thr | |
| XM_011513733.1:c.15+83G>A | XP_011512035.1:n.15+83G>A | |
| XM_011513734.1:c.46G>A | XP_011512036.1:p.Ala16Thr | |
| NM_001345867.1:c.-923G>A | NP_001332796.1:n.-923G>A | |
| NM_001345868.1:c.46G>A | NP_001332797.1:p.Ala16Thr | |
| NM_001345869.1:c.-815G>A | NP_001332798.1:n.-815G>A | |
| XM_024454178.1:c.15+83G>A | XP_024309946.1:n.15+83G>A | |
| NM_021927.3:c.46G>A MANE Select | NP_068746.2:p.Ala16Thr | |
| NM_001345867.2:c.-923G>A | NP_001332796.1:n.-923G>A | |
| NM_001345868.2:c.46G>A | NP_001332797.1:p.Ala16Thr | |
| NM_001345869.2:c.-815G>A | NP_001332798.1:n.-815G>A |