Linked Data
ClinVar Variation Id:
95851
dbSNP Id:
rs145569846
ExAC:
8:100494026 C / G
gnomAD v2:
8-100494026-C-G
gnomAD v3:
8-99481798-C-G
gnomAD v4:
8-99481798-C-G
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99481798C>G , CM000670.2:g.99481798C>G | GRCh38 |
| NC_000008.10:g.100494026C>G , CM000670.1:g.100494026C>G | GRCh37 |
| NC_000008.9:g.100563202C>G | NCBI36 |
| NG_007098.2:g.473533C>G , LRG_351:g.473533C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355155.6:c.3863C>G | ENSP00000347281.2:p.Thr1288Ser | |
| ENST00000682145.1:n.3743C>G | ||
| ENST00000682153.1:c.3866C>G | ENSP00000507923.1:p.Thr1289Ser | |
| ENST00000682234.1:c.*417C>G | ENSP00000508225.1:n.*417C>G | |
| ENST00000682358.1:n.3936C>G | ||
| ENST00000683334.1:c.3866C>G | ENSP00000507369.1:p.Thr1289Ser | |
| ENST00000683619.1:n.4038C>G | ||
| ENST00000357162.7:c.3866C>G MANE Select | ENSP00000349685.2:p.Thr1289Ser | |
| ENST00000358544.7:c.3866C>G MANE Plus Clinical | ENSP00000351346.2:p.Thr1289Ser | |
| ENST00000357162.6:c.3866C>G | ENSP00000349685.2:p.Thr1289Ser | |
| ENST00000358544.6:c.3866C>G | ENSP00000351346.2:p.Thr1289Ser | |
| ENST00000496144.5:c.3866C>G | ENSP00000430900.1:p.Thr1289Ser | |
| NM_017890.4:c.3866C>G , LRG_351t1:c.3866C>G | NP_060360.3:p.Thr1289Ser | |
| NM_152564.4:c.3866C>G , LRG_351t2:c.3866C>G | NP_689777.3:p.Thr1289Ser | |
| XM_005250800.2:c.3866C>G | XP_005250857.1:p.Thr1289Ser | |
| XM_005250801.3:c.3866C>G | XP_005250858.1:p.Thr1289Ser | |
| XM_006716510.2:c.3866C>G | XP_006716573.1:p.Thr1289Ser | |
| XM_011516848.1:c.3863C>G | XP_011515150.1:p.Thr1288Ser | |
| XM_011516849.1:c.3866C>G | XP_011515151.1:p.Thr1289Ser | |
| XM_011516850.1:c.3488C>G | XP_011515152.1:p.Thr1163Ser | |
| XM_011516851.1:c.752C>G | XP_011515153.1:p.Thr251Ser | |
| XM_011516852.1:c.752C>G | XP_011515154.1:p.Thr251Ser | |
| XM_011516853.1:c.3866C>G | XP_011515155.1:p.Thr1289Ser | |
| XM_011516855.1:c.3866C>G | XP_011515157.1:p.Thr1289Ser | |
| XM_011516856.1:c.3866C>G | XP_011515158.1:p.Thr1289Ser | |
| XM_011516857.1:c.3866C>G | XP_011515159.1:p.Thr1289Ser | |
| XM_011516858.1:c.3866C>G | XP_011515160.1:p.Thr1289Ser | |
| XR_928301.1:n.3969C>G | ||
| XR_928302.1:n.3969C>G | ||
| XR_928303.1:n.3969C>G | ||
| XR_928304.1:n.3969C>G | ||
| XM_005250800.3:c.3866C>G | XP_005250857.1:p.Thr1289Ser | |
| XM_005250801.5:c.3866C>G | XP_005250858.1:p.Thr1289Ser | |
| XM_006716510.3:c.3866C>G | XP_006716573.1:p.Thr1289Ser | |
| XM_011516848.2:c.3863C>G | XP_011515150.1:p.Thr1288Ser | |
| XM_011516849.2:c.3866C>G | XP_011515151.1:p.Thr1289Ser | |
| XM_011516850.2:c.3488C>G | XP_011515152.1:p.Thr1163Ser | |
| XM_011516851.2:c.752C>G | XP_011515153.1:p.Thr251Ser | |
| XM_011516852.2:c.752C>G | XP_011515154.1:p.Thr251Ser | |
| XM_011516853.2:c.3866C>G | XP_011515155.1:p.Thr1289Ser | |
| XM_011516854.2:c.-323C>G | XP_011515156.1:n.-323C>G | |
| XM_017013109.1:c.3671C>G | XP_016868598.1:p.Thr1224Ser | |
| XM_017013111.1:c.752C>G | XP_016868600.1:p.Thr251Ser | |
| XM_017013112.1:c.-645C>G | XP_016868601.1:n.-645C>G | |
| XM_024447074.1:c.2651C>G | XP_024302842.1:p.Thr884Ser | |
| XR_001745481.1:n.3969C>G | ||
| XR_001745482.2:n.3969C>G | ||
| XR_001745484.2:n.3985C>G | ||
| XR_002956601.1:n.3966C>G | ||
| XR_002956602.1:n.3985C>G | ||
| XR_928302.2:n.3969C>G | ||
| NM_017890.5:c.3866C>G MANE Plus Clinical | NP_060360.3:p.Thr1289Ser | |
| NM_152564.5:c.3866C>G MANE Select | NP_689777.3:p.Thr1289Ser |