Linked Data
ClinVar Variation Id:
6119
dbSNP Id:
rs104893969
ExAC:
6:39880033 C / T
gnomAD v2:
6-39880033-C-T
gnomAD v3:
6-39912289-C-T
gnomAD v4:
6-39912289-C-T
PubMed:
PMID:9921896
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39912289C>T , CM000668.2:g.39912289C>T | GRCh38 |
| NC_000006.11:g.39880033C>T , CM000668.1:g.39880033C>T | GRCh37 |
| NC_000006.10:g.39988011C>T | NCBI36 |
| NG_009297.1:g.27222G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340692.10:c.956G>A MANE Select | ENSP00000344794.5:p.Arg319Gln | |
| ENST00000645522.1:n.1094G>A | ||
| ENST00000340692.9:c.956G>A | ENSP00000344794.5:p.Arg319Gln | |
| ENST00000373181.8:c.695G>A | ENSP00000362277.4:p.Arg232Gln | |
| ENST00000373186.8:c.956G>A | ENSP00000362282.4:p.Arg319Gln | |
| ENST00000373188.6:c.956G>A | ENSP00000362284.2:p.Arg319Gln | |
| ENST00000373195.7:c.695G>A | ENSP00000362291.3:p.Arg232Gln | |
| ENST00000425303.6:c.956G>A | ENSP00000416478.2:p.Arg319Gln | |
| ENST00000432280.2:c.869G>A | ENSP00000410809.2:p.Arg290Gln | |
| NM_001075098.3:c.956G>A | NP_001068566.1:p.Arg319Gln | |
| NM_005943.5:c.956G>A | NP_005934.2:p.Arg319Gln | |
| NR_033233.1:n.963G>A | ||
| XM_011514632.1:c.956G>A | XP_011512934.1:p.Arg319Gln | |
| XM_011514633.1:c.956G>A | XP_011512935.1:p.Arg319Gln | |
| XM_011514634.1:c.695G>A | XP_011512936.1:p.Arg232Gln | |
| XM_011514635.1:c.956G>A | XP_011512937.1:p.Arg319Gln | |
| XR_926225.1:n.1001G>A | ||
| NM_001358529.1:c.956G>A | NP_001345458.1:p.Arg319Gln | |
| NM_001358530.1:c.956G>A | NP_001345459.1:p.Arg319Gln | |
| NM_001358531.1:c.695G>A | NP_001345460.1:p.Arg232Gln | |
| NM_001358533.1:c.695G>A | NP_001345462.1:p.Arg232Gln | |
| NM_001358534.1:c.695G>A | NP_001345463.1:p.Arg232Gln | |
| NM_001358530.2:c.956G>A MANE Select | NP_001345459.1:p.Arg319Gln | |
| NM_001075098.4:c.956G>A | NP_001068566.1:p.Arg319Gln | |
| NM_001358529.2:c.956G>A | NP_001345458.1:p.Arg319Gln | |
| NM_001358531.2:c.695G>A | NP_001345460.1:p.Arg232Gln | |
| NM_001358533.2:c.695G>A | NP_001345462.1:p.Arg232Gln | |
| NR_033233.2:n.874G>A | ||
| NM_001358534.2:c.695G>A | NP_001345463.1:p.Arg232Gln | |
| NM_005943.6:c.956G>A | NP_005934.2:p.Arg319Gln |