Linked Data
ClinVar Variation Id:
126302
dbSNP Id:
rs116445698
ExAC:
8:94811906 C / T
gnomAD v2:
8-94811906-C-T
gnomAD v3:
8-93799678-C-T
gnomAD v4:
8-93799678-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93799678C>T , CM000670.2:g.93799678C>T | GRCh38 |
| NC_000008.10:g.94811906C>T , CM000670.1:g.94811906C>T | GRCh37 |
| NC_000008.9:g.94881082C>T | NCBI36 |
| NG_009190.1:g.49835C>T , LRG_688:g.49835C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2161C>T | ENSP00000314488.4:p.Pro721Ser | |
| ENST00000409623.8:c.2116C>T | ENSP00000386966.4:p.Pro706Ser | |
| ENST00000452276.6:c.2161C>T | ENSP00000388671.2:p.Pro721Ser | |
| ENST00000453906.6:c.1279C>T | ENSP00000403035.2:p.Pro427Ser | |
| ENST00000518896.2:c.452C>T | ENSP00000507992.1:n.452C>T | |
| ENST00000520680.2:c.2284C>T | ENSP00000428785.2:p.Pro762Ser | |
| ENST00000521517.6:c.2062C>T | ENSP00000430740.2:p.Pro688Ser | |
| ENST00000681998.1:c.1982C>T | ENSP00000506773.1:n.1982C>T | |
| ENST00000682036.1:c.1402C>T | ENSP00000508390.1:p.Pro468Ser | |
| ENST00000682577.1:c.1934C>T | ENSP00000506963.1:n.1934C>T | |
| ENST00000682624.1:c.*1735C>T | ENSP00000508343.1:n.*1735C>T | |
| ENST00000682700.1:c.2161C>T | ENSP00000507627.1:p.Pro721Ser | |
| ENST00000682744.1:n.1699C>T | ||
| ENST00000682804.1:n.1984C>T | ||
| ENST00000682837.1:c.1650C>T | ENSP00000507920.1:n.1650C>T | |
| ENST00000682935.1:n.4211C>T | ||
| ENST00000682984.1:c.1822C>T | ENSP00000507209.1:p.Pro608Ser | |
| ENST00000683078.1:c.1916C>T | ENSP00000506796.1:n.1916C>T | |
| ENST00000683223.1:c.1893C>T | ENSP00000507685.1:n.1893C>T | |
| ENST00000683238.1:n.3385C>T | ||
| ENST00000683249.1:n.3758C>T | ||
| ENST00000683336.1:c.1982C>T | ENSP00000507695.1:n.1982C>T | |
| ENST00000683362.1:c.1822C>T | ENSP00000506985.1:p.Pro608Ser | |
| ENST00000683850.1:n.2084C>T | ||
| ENST00000683919.1:c.2091C>T | ENSP00000507617.1:n.2091C>T | |
| ENST00000683953.1:c.2072C>T | ENSP00000508375.1:n.2072C>T | |
| ENST00000684023.1:c.2138C>T | ENSP00000507461.1:n.2138C>T | |
| ENST00000684064.1:c.1852C>T | ENSP00000508192.1:p.Pro618Ser | |
| ENST00000684089.1:n.3711C>T | ||
| ENST00000684149.1:c.*1340C>T | ENSP00000507943.1:n.*1340C>T | |
| ENST00000684343.1:c.358C>T | ENSP00000507591.1:p.Pro120Ser | |
| ENST00000684416.1:n.2120C>T | ||
| ENST00000684540.1:c.2091C>T | ENSP00000507987.1:n.2091C>T | |
| ENST00000453321.8:c.2161C>T MANE Select | ENSP00000389998.3:p.Pro721Ser | |
| ENST00000323130.7:c.2131C>T | ENSP00000314488.3:p.Pro711Ser | |
| ENST00000409623.7:c.1918C>T | ENSP00000386966.3:p.Pro640Ser | |
| ENST00000453321.7:c.2161C>T | ENSP00000389998.3:p.Pro721Ser | |
| ENST00000474944.5:n.1299C>T | ||
| ENST00000519845.5:n.893C>T | ||
| NM_001142301.1:c.1918C>T , LRG_688t2:c.1918C>T | NP_001135773.1:p.Pro640Ser | |
| NM_153704.5:c.2161C>T , LRG_688t1:c.2161C>T | NP_714915.3:p.Pro721Ser | |
| NR_024522.1:n.2232C>T | ||
| XM_006716686.2:c.1858C>T | XP_006716749.1:p.Pro620Ser | |
| XM_006716687.2:c.1561C>T | XP_006716750.1:p.Pro521Ser | |
| XM_011517363.1:c.1279C>T | XP_011515665.1:p.Pro427Ser | |
| XR_428387.1:n.2219C>T | ||
| XR_928360.1:n.2219C>T | ||
| XR_928361.1:n.2219C>T | ||
| XR_928362.1:n.2219C>T | ||
| XM_006716686.4:c.1858C>T | XP_006716749.1:p.Pro620Ser | |
| XM_011517363.3:c.1279C>T | XP_011515665.1:p.Pro427Ser | |
| XM_024447326.1:c.1507C>T | XP_024303094.1:p.Pro503Ser | |
| XR_001745619.2:n.2202C>T | ||
| XR_428387.2:n.2202C>T | ||
| XR_928360.3:n.2202C>T | ||
| XR_928362.3:n.2202C>T | ||
| NM_153704.6:c.2161C>T MANE Select | NP_714915.3:p.Pro721Ser | |
| NR_024522.2:n.2182C>T |