Linked Data
ClinVar Variation Id:
2589360
ClinVar RCV Id:
RCV004338948
dbSNP Id:
rs144554854
ExAC:
8:142178385 C / T
gnomAD v2:
8-142178385-C-T
gnomAD v3:
8-141168286-C-T
gnomAD v4:
8-141168286-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.141168286C>T , CM000670.2:g.141168286C>T | GRCh38 |
| NC_000008.10:g.142178385C>T , CM000670.1:g.142178385C>T | GRCh37 |
| NC_000008.9:g.142247567C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519811.6:c.2036C>T MANE Select | ENSP00000428714.1:p.Thr679Met | |
| ENST00000262585.6:c.1796C>T | ENSP00000262585.2:p.Thr599Met | |
| ENST00000424248.2:c.1640C>T | ENSP00000410594.1:p.Thr547Met | |
| ENST00000518668.5:c.1809C>T | ||
| ENST00000519811.5:c.2036C>T | ENSP00000428714.1:p.Thr679Met | |
| ENST00000520482.1:n.1577C>T | ||
| NM_014957.2:c.1796C>T | NP_055772.2:p.Thr599Met | |
| XM_005250838.3:c.1835C>T | XP_005250895.2:p.Thr612Met | |
| XM_005250839.2:c.1835C>T | XP_005250896.2:p.Thr612Met | |
| XM_005250840.3:c.1679C>T | XP_005250897.2:p.Thr560Met | |
| XM_005250841.2:c.1679C>T | XP_005250898.2:p.Thr560Met | |
| XM_005250842.3:c.1802C>T | XP_005250899.1:p.Thr601Met | |
| XM_005250843.3:c.1292C>T | XP_005250900.1:p.Thr431Met | |
| XM_011516933.1:c.1835C>T | XP_011515235.1:p.Thr612Met | |
| XM_011516934.1:c.1835C>T | XP_011515236.1:p.Thr612Met | |
| XM_011516935.1:c.1469C>T | XP_011515237.1:p.Thr490Met | |
| XM_011516936.1:c.1463C>T | XP_011515238.1:p.Thr488Met | |
| XM_011516937.1:c.1835C>T | XP_011515239.1:p.Thr612Met | |
| XM_011516938.1:c.1004C>T | XP_011515240.1:p.Thr335Met | |
| XM_011516939.1:c.533C>T | XP_011515241.1:p.Thr178Met | |
| XM_011516940.1:c.533C>T | XP_011515242.1:p.Thr178Met | |
| XM_011516941.1:c.1835C>T | XP_011515243.1:p.Thr612Met | |
| XM_011516942.1:c.1835C>T | XP_011515244.1:p.Thr612Met | |
| XR_242384.2:n.1965C>T | ||
| XR_928310.1:n.1965C>T | ||
| XR_928311.1:n.1965C>T | ||
| XR_928312.1:n.1965C>T | ||
| NM_001352890.2:c.2036C>T | NP_001339819.2:p.Thr679Met | |
| NM_001362798.1:c.2036C>T | NP_001349727.1:p.Thr679Met | |
| NM_014957.4:c.1835C>T | NP_055772.3:p.Thr612Met | |
| NR_148197.2:n.2132C>T | ||
| XM_005250840.5:c.1880C>T | XP_005250897.3:p.Thr627Met | |
| XM_005250841.4:c.1880C>T | XP_005250898.3:p.Thr627Met | |
| XM_005250842.4:c.1802C>T | XP_005250899.1:p.Thr601Met | |
| XM_011516933.2:c.2036C>T | XP_011515235.2:p.Thr679Met | |
| XM_011516934.3:c.2036C>T | XP_011515236.2:p.Thr679Met | |
| XM_011516937.2:c.2036C>T | XP_011515239.2:p.Thr679Met | |
| XM_011516938.3:c.1004C>T | XP_011515240.1:p.Thr335Met | |
| XM_011516939.3:c.533C>T | XP_011515241.1:p.Thr178Met | |
| XM_011516940.2:c.533C>T | XP_011515242.1:p.Thr178Met | |
| XM_011516941.3:c.2036C>T | XP_011515243.2:p.Thr679Met | |
| XM_017013241.1:c.1835C>T | XP_016868730.1:p.Thr612Met | |
| XM_017013242.1:c.1292C>T | XP_016868731.1:p.Thr431Met | |
| XM_017013243.1:c.572C>T | XP_016868732.1:p.Thr191Met | |
| XR_001745497.2:n.2182C>T | ||
| XR_001745498.2:n.2182C>T | ||
| XR_928310.3:n.2182C>T | ||
| XR_928312.3:n.2182C>T | ||
| NM_001352890.3:c.2036C>T MANE Select | NP_001339819.2:p.Thr679Met | |
| NM_001362798.2:c.2036C>T | NP_001349727.1:p.Thr679Met | |
| NM_014957.5:c.1835C>T | NP_055772.3:p.Thr612Met | |
| NR_148197.3:n.2155C>T |