Linked Data
ClinVar Variation Id:
55521
dbSNP Id:
rs80357324
ExAC:
17:41203095 T / A
gnomAD v2:
17-41203095-T-A
gnomAD v3:
17-43051078-T-A
gnomAD v4:
17-43051078-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43051078T>A , CM000679.2:g.43051078T>A | GRCh38 |
| NC_000017.10:g.41203095T>A , CM000679.1:g.41203095T>A | GRCh37 |
| NC_000017.9:g.38456621T>A | NCBI36 |
| NG_005905.2:g.166906A>T , LRG_292:g.166906A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5314A>T | ENSP00000417241.2:p.Thr1772Ser | |
| ENST00000470026.6:c.5317A>T | ENSP00000419274.2:p.Thr1773Ser | |
| ENST00000473961.6:c.5191A>T | ENSP00000420201.2:p.Thr1731Ser | |
| ENST00000476777.6:c.5311A>T | ENSP00000417554.2:p.Thr1771Ser | |
| ENST00000477152.6:c.5239A>T | ENSP00000419988.2:p.Thr1747Ser | |
| ENST00000478531.6:c.2005A>T | ENSP00000420412.2:p.Thr669Ser | |
| ENST00000489037.2:c.5239A>T | ENSP00000420781.2:p.Thr1747Ser | |
| ENST00000493919.6:c.1867A>T | ENSP00000418819.2:p.Thr623Ser | |
| ENST00000494123.6:c.5317A>T | ENSP00000419103.2:p.Thr1773Ser | |
| ENST00000497488.2:c.4429A>T | ENSP00000418986.2:p.Thr1477Ser | |
| ENST00000618469.2:c.5317A>T | ENSP00000478114.2:p.Thr1773Ser | |
| ENST00000634433.2:c.5194A>T | ENSP00000489431.2:p.Thr1732Ser | |
| ENST00000644379.2:c.5383A>T | ENSP00000496570.2:p.Thr1795Ser | |
| ENST00000644555.2:c.1867A>T | ENSP00000494614.2:p.Thr623Ser | |
| ENST00000652672.2:c.5176A>T | ENSP00000498906.2:p.Thr1726Ser | |
| ENST00000484087.6:c.1879A>T | ENSP00000419481.2:p.Thr627Ser | |
| ENST00000357654.9:c.5317A>T MANE Select | ENSP00000350283.3:p.Thr1773Ser | |
| ENST00000471181.7:c.5380A>T | ENSP00000418960.2:p.Thr1794Ser | |
| ENST00000644379.1:c.1704A>T | ||
| ENST00000352993.7:c.1891A>T | ENSP00000312236.5:p.Thr631Ser | |
| ENST00000357654.7:c.5317A>T | ENSP00000350283.3:p.Thr1773Ser | |
| ENST00000461221.5:c.*5100A>T | ENSP00000418548.1:n.*5100A>T | |
| ENST00000468300.5:c.2005A>T | ENSP00000417148.1:p.Thr669Ser | |
| ENST00000471181.6:c.5380A>T | ENSP00000418960.2:p.Thr1794Ser | |
| ENST00000491747.6:c.2005A>T | ENSP00000420705.2:p.Thr669Ser | |
| ENST00000493795.5:c.5176A>T | ENSP00000418775.1:p.Thr1726Ser | |
| ENST00000586385.5:c.247A>T | ENSP00000465818.1:p.Thr83Ser | |
| ENST00000591534.5:c.790A>T | ENSP00000467329.1:p.Thr264Ser | |
| ENST00000591849.5:c.-98-888A>T | ENSP00000465347.1:n.-98-888A>T | |
| NM_007294.3:c.5317A>T , LRG_292t1:c.5317A>T | NP_009225.1:p.Thr1773Ser | |
| NM_007297.3:c.5176A>T | NP_009228.2:p.Thr1726Ser | |
| NM_007298.3:c.2005A>T | NP_009229.2:p.Thr669Ser | |
| NM_007299.3:c.2005A>T | NP_009230.2:p.Thr669Ser | |
| NM_007300.3:c.5380A>T | NP_009231.2:p.Thr1794Ser | |
| NR_027676.1:n.5453A>T | ||
| NM_007294.4:c.5317A>T MANE Select | NP_009225.1:p.Thr1773Ser | |
| NM_007297.4:c.5176A>T | NP_009228.2:p.Thr1726Ser | |
| NM_007299.4:c.2005A>T | NP_009230.2:p.Thr669Ser | |
| NM_007300.4:c.5380A>T | NP_009231.2:p.Thr1794Ser | |
| NR_027676.2:n.5494A>T |