Linked Data
ClinVar Variation Id:
232037
dbSNP Id:
rs876659510
gnomAD v4:
17-43047703-C-T
PubMed:
PMID:23239986
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43047703C>T , CM000679.2:g.43047703C>T | GRCh38 |
| NC_000017.10:g.41199720C>T , CM000679.1:g.41199720C>T | GRCh37 |
| NC_000017.9:g.38453246C>T | NCBI36 |
| NG_005905.2:g.170281G>A , LRG_292:g.170281G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5404G>A | ENSP00000417241.2:p.Gly1802Ser | |
| ENST00000470026.6:c.5407G>A | ENSP00000419274.2:p.Gly1803Ser | |
| ENST00000473961.6:c.5281G>A | ENSP00000420201.2:p.Gly1761Ser | |
| ENST00000476777.6:c.5401G>A | ENSP00000417554.2:p.Gly1801Ser | |
| ENST00000477152.6:c.5329G>A | ENSP00000419988.2:p.Gly1777Ser | |
| ENST00000478531.6:c.2095G>A | ENSP00000420412.2:p.Gly699Ser | |
| ENST00000489037.2:c.5329G>A | ENSP00000420781.2:p.Gly1777Ser | |
| ENST00000493919.6:c.1957G>A | ENSP00000418819.2:p.Gly653Ser | |
| ENST00000494123.6:c.5407G>A | ENSP00000419103.2:p.Gly1803Ser | |
| ENST00000497488.2:c.4519G>A | ENSP00000418986.2:p.Gly1507Ser | |
| ENST00000618469.2:c.5407G>A | ENSP00000478114.2:p.Gly1803Ser | |
| ENST00000634433.2:c.5284G>A | ENSP00000489431.2:p.Gly1762Ser | |
| ENST00000644379.2:c.5473G>A | ENSP00000496570.2:p.Gly1825Ser | |
| ENST00000644555.2:c.1957G>A | ENSP00000494614.2:p.Gly653Ser | |
| ENST00000652672.2:c.5266G>A | ENSP00000498906.2:p.Gly1756Ser | |
| ENST00000484087.6:c.1969G>A | ENSP00000419481.2:p.Gly657Ser | |
| ENST00000700081.1:n.1290G>A | ||
| ENST00000700082.1:n.771G>A | ||
| ENST00000357654.9:c.5407G>A MANE Select | ENSP00000350283.3:p.Gly1803Ser | |
| ENST00000471181.7:c.5470G>A | ENSP00000418960.2:p.Gly1824Ser | |
| ENST00000644379.1:c.1794G>A | ||
| ENST00000352993.7:c.1981G>A | ENSP00000312236.5:p.Gly661Ser | |
| ENST00000357654.7:c.5407G>A | ENSP00000350283.3:p.Gly1803Ser | |
| ENST00000461221.5:c.*5190G>A | ENSP00000418548.1:n.*5190G>A | |
| ENST00000468300.5:c.2021G>A | ENSP00000417148.1:p.Gly674Glu | |
| ENST00000471181.6:c.5470G>A | ENSP00000418960.2:p.Gly1824Ser | |
| ENST00000491747.6:c.2095G>A | ENSP00000420705.2:p.Gly699Ser | |
| ENST00000493795.5:c.5266G>A | ENSP00000418775.1:p.Gly1756Ser | |
| ENST00000586385.5:c.337G>A | ENSP00000465818.1:p.Gly113Ser | |
| ENST00000591534.5:c.880G>A | ENSP00000467329.1:p.Gly294Ser | |
| ENST00000591849.5:c.106G>A | ENSP00000465347.1:p.Gly36Ser | |
| NM_007294.3:c.5407G>A , LRG_292t1:c.5407G>A | NP_009225.1:p.Gly1803Ser | |
| NM_007297.3:c.5266G>A | NP_009228.2:p.Gly1756Ser | |
| NM_007298.3:c.2095G>A | NP_009229.2:p.Gly699Ser | |
| NM_007299.3:c.2021G>A | NP_009230.2:p.Gly674Glu | |
| NM_007300.3:c.5470G>A | NP_009231.2:p.Gly1824Ser | |
| NR_027676.1:n.5543G>A | ||
| NM_007294.4:c.5407G>A MANE Select | NP_009225.1:p.Gly1803Ser | |
| NM_007297.4:c.5266G>A | NP_009228.2:p.Gly1756Ser | |
| NM_007299.4:c.2021G>A | NP_009230.2:p.Gly674Glu | |
| NM_007300.4:c.5470G>A | NP_009231.2:p.Gly1824Ser | |
| NR_027676.2:n.5584G>A |