Linked Data
ClinVar Variation Id:
345673
dbSNP Id:
rs373627201
ExAC:
3:47044189 A / T
gnomAD v2:
3-47044189-A-T
gnomAD v3:
3-47002699-A-T
gnomAD v4:
3-47002699-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47002699A>T , CM000665.2:g.47002699A>T | GRCh38 |
| NC_000003.11:g.47044189A>T , CM000665.1:g.47044189A>T | GRCh37 |
| NC_000003.10:g.47019193A>T | NCBI36 |
| NG_031914.1:g.28017A>T , LRG_568:g.28017A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450053.8:c.5356A>T MANE Select | ENSP00000415034.2:p.Thr1786Ser | |
| ENST00000651747.1:c.5254A>T | ENSP00000499216.1:p.Thr1752Ser | |
| ENST00000416683.5:c.3219A>T | ||
| ENST00000443829.5:c.461A>T | ||
| ENST00000450053.7:c.5356A>T | ENSP00000415034.2:p.Thr1786Ser | |
| NM_015175.2:c.5356A>T , LRG_568t1:c.5356A>T | NP_055990.1:p.Thr1786Ser | |
| XM_005264992.2:c.5254A>T | XP_005265049.1:p.Thr1752Ser | |
| XM_005264993.2:c.1828A>T | XP_005265050.1:p.Thr610Ser | |
| XM_006713072.2:c.5275A>T | XP_006713135.1:p.Thr1759Ser | |
| XM_011533532.1:c.5335A>T | XP_011531834.1:p.Thr1779Ser | |
| XM_011533533.1:c.5356A>T | XP_011531835.1:p.Thr1786Ser | |
| XM_011533534.1:c.4987A>T | XP_011531836.1:p.Thr1663Ser | |
| XM_011533535.1:c.4816A>T | XP_011531837.1:p.Thr1606Ser | |
| XM_011533536.1:c.4702A>T | XP_011531838.1:p.Thr1568Ser | |
| XM_011533537.1:c.4264A>T | XP_011531839.1:p.Thr1422Ser | |
| XR_940397.1:n.5532A>T | ||
| XR_940398.1:n.5546A>T | ||
| NM_001365116.1:c.5254A>T | NP_001352045.1:p.Thr1752Ser | |
| XM_006713072.3:c.5275A>T | XP_006713135.1:p.Thr1759Ser | |
| XM_011533533.2:c.5356A>T | XP_011531835.1:p.Thr1786Ser | |
| XM_017006010.1:c.5356A>T | XP_016861499.1:p.Thr1786Ser | |
| XM_017006011.1:c.5335A>T | XP_016861500.1:p.Thr1779Ser | |
| XM_017006012.1:c.5275A>T | XP_016861501.1:p.Thr1759Ser | |
| XM_017006013.1:c.5356A>T | XP_016861502.1:p.Thr1786Ser | |
| XM_017006014.1:c.5254A>T | XP_016861503.1:p.Thr1752Ser | |
| XM_017006015.1:c.4987A>T | XP_016861504.1:p.Thr1663Ser | |
| XM_017006016.1:c.4816A>T | XP_016861505.1:p.Thr1606Ser | |
| XM_017006017.1:c.1828A>T | XP_016861506.1:p.Thr610Ser | |
| XR_940397.2:n.5532A>T | ||
| NM_001365116.2:c.5254A>T | NP_001352045.1:p.Thr1752Ser | |
| NM_015175.3:c.5356A>T MANE Select | NP_055990.1:p.Thr1786Ser |