Linked Data
ClinVar Variation Id:
497917
dbSNP Id:
rs370004832
ExAC:
8:94809607 C / T
gnomAD v2:
8-94809607-C-T
gnomAD v3:
8-93797379-C-T
gnomAD v4:
8-93797379-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93797379C>T , CM000670.2:g.93797379C>T | GRCh38 |
| NC_000008.10:g.94809607C>T , CM000670.1:g.94809607C>T | GRCh37 |
| NC_000008.9:g.94878783C>T | NCBI36 |
| NG_009190.1:g.47536C>T , LRG_688:g.47536C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2009C>T | ENSP00000314488.4:p.Thr670Ile | |
| ENST00000409623.8:c.1964C>T | ENSP00000386966.4:p.Thr655Ile | |
| ENST00000452276.6:c.2009C>T | ENSP00000388671.2:p.Thr670Ile | |
| ENST00000453906.6:c.1127C>T | ENSP00000403035.2:p.Thr376Ile | |
| ENST00000518896.2:c.300C>T | ENSP00000507992.1:n.300C>T | |
| ENST00000520680.2:c.2132C>T | ENSP00000428785.2:p.Thr711Ile | |
| ENST00000521517.6:c.1910C>T | ENSP00000430740.2:p.Thr637Ile | |
| ENST00000681998.1:c.1830C>T | ENSP00000506773.1:n.1830C>T | |
| ENST00000682036.1:c.1250C>T | ENSP00000508390.1:p.Thr417Ile | |
| ENST00000682577.1:c.1782C>T | ENSP00000506963.1:n.1782C>T | |
| ENST00000682624.1:c.*1583C>T | ENSP00000508343.1:n.*1583C>T | |
| ENST00000682700.1:c.2009C>T | ENSP00000507627.1:p.Thr670Ile | |
| ENST00000682744.1:n.1547C>T | ||
| ENST00000682804.1:n.1832C>T | ||
| ENST00000682837.1:c.1498C>T | ENSP00000507920.1:n.1498C>T | |
| ENST00000682935.1:n.4059C>T | ||
| ENST00000682984.1:c.1670C>T | ENSP00000507209.1:p.Thr557Ile | |
| ENST00000683078.1:c.1764C>T | ENSP00000506796.1:n.1764C>T | |
| ENST00000683223.1:c.1741C>T | ENSP00000507685.1:n.1741C>T | |
| ENST00000683238.1:n.3233C>T | ||
| ENST00000683249.1:n.3606C>T | ||
| ENST00000683336.1:c.1830C>T | ENSP00000507695.1:n.1830C>T | |
| ENST00000683362.1:c.1670C>T | ENSP00000506985.1:p.Thr557Ile | |
| ENST00000683850.1:n.1932C>T | ||
| ENST00000683919.1:c.1939C>T | ENSP00000507617.1:n.1939C>T | |
| ENST00000683953.1:c.1920C>T | ENSP00000508375.1:n.1920C>T | |
| ENST00000684023.1:c.1986C>T | ENSP00000507461.1:n.1986C>T | |
| ENST00000684064.1:c.1700C>T | ENSP00000508192.1:p.Thr567Ile | |
| ENST00000684089.1:n.3559C>T | ||
| ENST00000684149.1:c.*1188C>T | ENSP00000507943.1:n.*1188C>T | |
| ENST00000684343.1:c.206C>T | ENSP00000507591.1:p.Thr69Ile | |
| ENST00000684416.1:n.1968C>T | ||
| ENST00000684540.1:c.1939C>T | ENSP00000507987.1:n.1939C>T | |
| ENST00000453321.8:c.2009C>T MANE Select | ENSP00000389998.3:p.Thr670Ile | |
| ENST00000323130.7:c.1979C>T | ENSP00000314488.3:p.Thr660Ile | |
| ENST00000409623.7:c.1766C>T | ENSP00000386966.3:p.Thr589Ile | |
| ENST00000453321.7:c.2009C>T | ENSP00000389998.3:p.Thr670Ile | |
| ENST00000474944.5:n.1147C>T | ||
| ENST00000519845.5:n.741C>T | ||
| ENST00000523230.5:n.544C>T | ||
| NM_001142301.1:c.1766C>T , LRG_688t2:c.1766C>T | NP_001135773.1:p.Thr589Ile | |
| NM_153704.5:c.2009C>T , LRG_688t1:c.2009C>T | NP_714915.3:p.Thr670Ile | |
| NR_024522.1:n.2080C>T | ||
| XM_006716686.2:c.1706C>T | XP_006716749.1:p.Thr569Ile | |
| XM_006716687.2:c.1409C>T | XP_006716750.1:p.Thr470Ile | |
| XM_011517363.1:c.1127C>T | XP_011515665.1:p.Thr376Ile | |
| XR_428387.1:n.2067C>T | ||
| XR_928360.1:n.2067C>T | ||
| XR_928361.1:n.2067C>T | ||
| XR_928362.1:n.2067C>T | ||
| XM_006716686.4:c.1706C>T | XP_006716749.1:p.Thr569Ile | |
| XM_011517363.3:c.1127C>T | XP_011515665.1:p.Thr376Ile | |
| XM_024447326.1:c.1355C>T | XP_024303094.1:p.Thr452Ile | |
| XR_001745619.2:n.2050C>T | ||
| XR_428387.2:n.2050C>T | ||
| XR_928360.3:n.2050C>T | ||
| XR_928362.3:n.2050C>T | ||
| NM_153704.6:c.2009C>T MANE Select | NP_714915.3:p.Thr670Ile | |
| NR_024522.2:n.2030C>T |