Linked Data
ClinVar Variation Id:
383871
dbSNP Id:
rs111534551
ExAC:
9:131008765 C / T
gnomAD v2:
9-131008765-C-T
gnomAD v3:
9-128246486-C-T
gnomAD v4:
9-128246486-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128246486C>T , CM000671.2:g.128246486C>T | GRCh38 |
| NC_000009.11:g.131008765C>T , CM000671.1:g.131008765C>T | GRCh37 |
| NC_000009.10:g.130048586C>T | NCBI36 |
| NG_029726.1:g.48103C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706053.1:c.1764C>T | ENSP00000516205.1:p.Leu588= | |
| ENST00000706054.1:c.1399C>T | ||
| ENST00000372923.8:c.1764C>T MANE Select | ENSP00000362014.4:p.Leu588= | |
| ENST00000634267.2:c.1764C>T | ENSP00000489096.1:p.Leu588= | |
| ENST00000636201.1:c.41-839C>T | ||
| ENST00000341179.11:c.1764C>T | ENSP00000345680.7:p.Leu588= | |
| ENST00000372923.7:c.1764C>T | ENSP00000362014.3:p.Leu588= | |
| ENST00000393594.7:c.1764C>T | ENSP00000377219.3:p.Leu588= | |
| ENST00000441149.6:n.1565C>T | ||
| ENST00000475805.5:c.1764C>T | ENSP00000419225.1:p.Leu588= | |
| ENST00000486160.3:c.1764C>T | ENSP00000420045.1:p.Leu588= | |
| ENST00000493925.3:n.507C>T | ||
| ENST00000627061.2:c.1677C>T | ENSP00000486437.1:p.Leu559= | |
| ENST00000627543.2:c.1764C>T | ENSP00000487310.1:p.Leu588= | |
| ENST00000628346.2:c.1752C>T | ENSP00000486525.1:p.Leu584= | |
| ENST00000631179.2:n.289C>T | ||
| ENST00000634267.1:c.1764C>T | ENSP00000489096.1:p.Leu588= | |
| NM_001005336.2:c.1764C>T | NP_001005336.1:p.Leu588= | |
| NM_001288737.1:c.1764C>T | NP_001275666.1:p.Leu588= | |
| NM_001288738.1:c.1764C>T | NP_001275667.1:p.Leu588= | |
| NM_001288739.1:c.1764C>T | NP_001275668.1:p.Leu588= | |
| NM_004408.3:c.1764C>T | NP_004399.2:p.Leu588= | |
| XM_005251763.1:c.1764C>T | XP_005251820.1:p.Leu588= | |
| XM_005251764.1:c.1764C>T | XP_005251821.1:p.Leu588= | |
| XM_005251768.1:c.1764C>T | XP_005251825.1:p.Leu588= | |
| XM_005251769.1:c.1764C>T | XP_005251826.1:p.Leu588= | |
| XM_006716992.1:c.1764C>T | XP_006717055.1:p.Leu588= | |
| XM_011518334.1:c.1764C>T | XP_011516636.1:p.Leu588= | |
| XM_011518335.1:c.1752C>T | XP_011516637.1:p.Leu584= | |
| XM_011518336.1:c.1752C>T | XP_011516638.1:p.Leu584= | |
| XM_011518337.1:c.1764C>T | XP_011516639.1:p.Leu588= | |
| XR_242572.1:n.1880C>T | ||
| XR_242573.2:n.1880C>T | ||
| XR_929729.1:n.1880C>T | ||
| XR_929730.1:n.1880C>T | ||
| XM_005251763.3:c.1764C>T | XP_005251820.1:p.Leu588= | |
| XM_005251768.3:c.1764C>T | XP_005251825.1:p.Leu588= | |
| XM_005251769.3:c.1764C>T | XP_005251826.1:p.Leu588= | |
| XM_006716992.3:c.1764C>T | XP_006717055.1:p.Leu588= | |
| XM_011518335.3:c.1752C>T | XP_011516637.1:p.Leu584= | |
| XM_011518336.3:c.1752C>T | XP_011516638.1:p.Leu584= | |
| XM_017014369.2:c.1764C>T | XP_016869858.1:p.Leu588= | |
| XM_017014370.2:c.1764C>T | XP_016869859.1:p.Leu588= | |
| XM_017014371.2:c.1764C>T | XP_016869860.1:p.Leu588= | |
| XM_017014373.2:c.1752C>T | XP_016869862.1:p.Leu584= | |
| XR_001746219.2:n.1856C>T | ||
| XR_001746220.2:n.1856C>T | ||
| XR_001746221.2:n.1856C>T | ||
| XR_001746222.2:n.1856C>T | ||
| NM_001005336.3:c.1764C>T | NP_001005336.1:p.Leu588= | |
| NM_001288737.2:c.1764C>T | NP_001275666.1:p.Leu588= | |
| NM_001288738.2:c.1764C>T | NP_001275667.1:p.Leu588= | |
| NM_001288739.2:c.1764C>T | NP_001275668.1:p.Leu588= | |
| NM_001374269.1:c.1764C>T | NP_001361198.1:p.Leu588= | |
| NM_004408.4:c.1764C>T MANE Select | NP_004399.2:p.Leu588= |