Linked Data
ClinVar Variation Id:
356665
ClinVar RCV Id:
RCV000273845
dbSNP Id:
rs375882259
ExAC:
6:39883969 G / A
gnomAD v2:
6-39883969-G-A
gnomAD v3:
6-39916225-G-A
gnomAD v4:
6-39916225-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39916225G>A , CM000668.2:g.39916225G>A | GRCh38 |
| NC_000006.11:g.39883969G>A , CM000668.1:g.39883969G>A | GRCh37 |
| NC_000006.10:g.39991947G>A | NCBI36 |
| NG_009297.1:g.23286C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340692.10:c.426C>T MANE Select | ENSP00000344794.5:p.Leu142= | |
| ENST00000645522.1:n.564C>T | ||
| ENST00000340692.9:c.426C>T | ENSP00000344794.5:p.Leu142= | |
| ENST00000373181.8:c.165C>T | ENSP00000362277.4:p.Leu55= | |
| ENST00000373186.8:c.426C>T | ENSP00000362282.4:p.Leu142= | |
| ENST00000373188.6:c.426C>T | ENSP00000362284.2:p.Leu142= | |
| ENST00000373195.7:c.165C>T | ENSP00000362291.3:p.Leu55= | |
| ENST00000425303.6:c.426C>T | ENSP00000416478.2:p.Leu142= | |
| ENST00000432280.2:c.339C>T | ENSP00000410809.2:p.Leu113= | |
| ENST00000473742.1:n.306C>T | ||
| NM_001075098.3:c.426C>T | NP_001068566.1:p.Leu142= | |
| NM_005943.5:c.426C>T | NP_005934.2:p.Leu142= | |
| NR_033233.1:n.433C>T | ||
| XM_011514632.1:c.426C>T | XP_011512934.1:p.Leu142= | |
| XM_011514633.1:c.426C>T | XP_011512935.1:p.Leu142= | |
| XM_011514634.1:c.165C>T | XP_011512936.1:p.Leu55= | |
| XM_011514635.1:c.426C>T | XP_011512937.1:p.Leu142= | |
| XR_926225.1:n.471C>T | ||
| NM_001358529.1:c.426C>T | NP_001345458.1:p.Leu142= | |
| NM_001358530.1:c.426C>T | NP_001345459.1:p.Leu142= | |
| NM_001358531.1:c.165C>T | NP_001345460.1:p.Leu55= | |
| NM_001358533.1:c.165C>T | NP_001345462.1:p.Leu55= | |
| NM_001358534.1:c.165C>T | NP_001345463.1:p.Leu55= | |
| NM_001358530.2:c.426C>T MANE Select | NP_001345459.1:p.Leu142= | |
| NM_001075098.4:c.426C>T | NP_001068566.1:p.Leu142= | |
| NM_001358529.2:c.426C>T | NP_001345458.1:p.Leu142= | |
| NM_001358531.2:c.165C>T | NP_001345460.1:p.Leu55= | |
| NM_001358533.2:c.165C>T | NP_001345462.1:p.Leu55= | |
| NR_033233.2:n.344C>T | ||
| NM_001358534.2:c.165C>T | NP_001345463.1:p.Leu55= | |
| NM_005943.6:c.426C>T | NP_005934.2:p.Leu142= |