Linked Data
ClinVar Variation Id:
91638
dbSNP Id:
rs398122691
gnomAD v3:
17-43063897-C-T
gnomAD v4:
17-43063897-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063897C>T , CM000679.2:g.43063897C>T | GRCh38 |
| NC_000017.10:g.41215914C>T , CM000679.1:g.41215914C>T | GRCh37 |
| NC_000017.9:g.38469440C>T | NCBI36 |
| NG_005905.2:g.154087G>A , LRG_292:g.154087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5126G>A | ENSP00000417241.2:p.Gly1709Glu | |
| ENST00000470026.6:c.5129G>A | ENSP00000419274.2:p.Gly1710Glu | |
| ENST00000473961.6:c.5003G>A | ENSP00000420201.2:p.Gly1668Glu | |
| ENST00000476777.6:c.5123G>A | ENSP00000417554.2:p.Gly1708Glu | |
| ENST00000477152.6:c.5051G>A | ENSP00000419988.2:p.Gly1684Glu | |
| ENST00000478531.6:c.1817G>A | ENSP00000420412.2:p.Gly606Glu | |
| ENST00000489037.2:c.5051G>A | ENSP00000420781.2:p.Gly1684Glu | |
| ENST00000493919.6:c.1679G>A | ENSP00000418819.2:p.Gly560Glu | |
| ENST00000494123.6:c.5129G>A | ENSP00000419103.2:p.Gly1710Glu | |
| ENST00000497488.2:c.4241G>A | ENSP00000418986.2:p.Gly1414Glu | |
| ENST00000618469.2:c.5129G>A | ENSP00000478114.2:p.Gly1710Glu | |
| ENST00000634433.2:c.5006G>A | ENSP00000489431.2:p.Gly1669Glu | |
| ENST00000644379.2:c.5195G>A | ENSP00000496570.2:p.Gly1732Glu | |
| ENST00000644555.2:c.1679G>A | ENSP00000494614.2:p.Gly560Glu | |
| ENST00000652672.2:c.4988G>A | ENSP00000498906.2:p.Gly1663Glu | |
| ENST00000484087.6:c.1691G>A | ENSP00000419481.2:p.Gly564Glu | |
| ENST00000357654.9:c.5129G>A MANE Select | ENSP00000350283.3:p.Gly1710Glu | |
| ENST00000471181.7:c.5192G>A | ENSP00000418960.2:p.Gly1731Glu | |
| ENST00000644379.1:c.1516G>A | ||
| ENST00000352993.7:c.1703G>A | ENSP00000312236.5:p.Gly568Glu | |
| ENST00000357654.7:c.5129G>A | ENSP00000350283.3:p.Gly1710Glu | |
| ENST00000461221.5:c.*4912G>A | ENSP00000418548.1:n.*4912G>A | |
| ENST00000468300.5:c.1817G>A | ENSP00000417148.1:p.Gly606Glu | |
| ENST00000471181.6:c.5192G>A | ENSP00000418960.2:p.Gly1731Glu | |
| ENST00000478531.5:c.1817G>A | ENSP00000420412.1:p.Gly606Glu | |
| ENST00000484087.5:c.1442G>A | ENSP00000419481.1:p.Gly481Glu | |
| ENST00000491747.6:c.1817G>A | ENSP00000420705.2:p.Gly606Glu | |
| ENST00000493795.5:c.4988G>A | ENSP00000418775.1:p.Gly1663Glu | |
| ENST00000493919.5:c.1679G>A | ENSP00000418819.1:p.Gly560Glu | |
| ENST00000586385.5:c.59G>A | ENSP00000465818.1:p.Gly20Glu | |
| ENST00000591534.5:c.602G>A | ENSP00000467329.1:p.Gly201Glu | |
| ENST00000591849.5:c.-98-13707G>A | ENSP00000465347.1:n.-98-13707G>A | |
| NM_007294.3:c.5129G>A , LRG_292t1:c.5129G>A | NP_009225.1:p.Gly1710Glu | |
| NM_007297.3:c.4988G>A | NP_009228.2:p.Gly1663Glu | |
| NM_007298.3:c.1817G>A | NP_009229.2:p.Gly606Glu | |
| NM_007299.3:c.1817G>A | NP_009230.2:p.Gly606Glu | |
| NM_007300.3:c.5192G>A | NP_009231.2:p.Gly1731Glu | |
| NR_027676.1:n.5265G>A | ||
| NM_007294.4:c.5129G>A MANE Select | NP_009225.1:p.Gly1710Glu | |
| NM_007297.4:c.4988G>A | NP_009228.2:p.Gly1663Glu | |
| NM_007299.4:c.1817G>A | NP_009230.2:p.Gly606Glu | |
| NM_007300.4:c.5192G>A | NP_009231.2:p.Gly1731Glu | |
| NR_027676.2:n.5306G>A |