Linked Data
ClinVar Variation Id:
186252
ClinVar RCV Id:
RCV000165814
RCV000203862
RCV000411367
RCV000759525
RCV001170594
RCV001193747
RCV001354503
RCV002485026
dbSNP Id:
rs397509100
gnomAD v2:
17-41243790-G-C
gnomAD v3:
17-43091773-G-C
gnomAD v4:
17-43091773-G-C
PubMed:
PMID:25036526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091773G>C , CM000679.2:g.43091773G>C | GRCh38 |
| NC_000017.10:g.41243790G>C , CM000679.1:g.41243790G>C | GRCh37 |
| NC_000017.9:g.38497316G>C | NCBI36 |
| NG_005905.2:g.126211C>G , LRG_292:g.126211C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.3822C>G | ||
| ENST00000461574.2:c.3758C>G | ENSP00000417241.2:p.Ser1253Cys | |
| ENST00000470026.6:c.3758C>G | ENSP00000419274.2:p.Ser1253Cys | |
| ENST00000473961.6:c.3632C>G | ENSP00000420201.2:p.Ser1211Cys | |
| ENST00000476777.6:c.3755C>G | ENSP00000417554.2:p.Ser1252Cys | |
| ENST00000477152.6:c.3680C>G | ENSP00000419988.2:p.Ser1227Cys | |
| ENST00000478531.6:c.785-741C>G | ENSP00000420412.2:n.785-741C>G | |
| ENST00000489037.2:c.3680C>G | ENSP00000420781.2:p.Ser1227Cys | |
| ENST00000493919.6:c.647-741C>G | ENSP00000418819.2:n.647-741C>G | |
| ENST00000494123.6:c.3758C>G | ENSP00000419103.2:p.Ser1253Cys | |
| ENST00000497488.2:c.2870C>G | ENSP00000418986.2:p.Ser957Cys | |
| ENST00000618469.2:c.3758C>G | ENSP00000478114.2:p.Ser1253Cys | |
| ENST00000634433.2:c.3635C>G | ENSP00000489431.2:p.Ser1212Cys | |
| ENST00000644379.2:c.3758C>G | ENSP00000496570.2:p.Ser1253Cys | |
| ENST00000644555.2:c.647-741C>G | ENSP00000494614.2:n.647-741C>G | |
| ENST00000652672.2:c.3617C>G | ENSP00000498906.2:p.Ser1206Cys | |
| ENST00000484087.6:c.665-741C>G | ENSP00000419481.2:n.665-741C>G | |
| ENST00000700182.1:c.707-741C>G | ENSP00000514849.1:n.707-741C>G | |
| ENST00000357654.9:c.3758C>G MANE Select | ENSP00000350283.3:p.Ser1253Cys | |
| ENST00000471181.7:c.3758C>G | ENSP00000418960.2:p.Ser1253Cys | |
| ENST00000644379.1:c.79C>G | ||
| ENST00000352993.7:c.671-741C>G | ENSP00000312236.5:n.671-741C>G | |
| ENST00000354071.7:c.3758C>G | ENSP00000326002.7:p.Ser1253Cys | |
| ENST00000357654.7:c.3758C>G | ENSP00000350283.3:p.Ser1253Cys | |
| ENST00000461221.5:c.*3541C>G | ENSP00000418548.1:n.*3541C>G | |
| ENST00000461574.1:c.52C>G | ||
| ENST00000468300.5:c.788-741C>G | ENSP00000417148.1:n.788-741C>G | |
| ENST00000471181.6:c.3758C>G | ENSP00000418960.2:p.Ser1253Cys | |
| ENST00000478531.5:c.785-741C>G | ENSP00000420412.1:n.785-741C>G | |
| ENST00000484087.5:c.410-741C>G | ENSP00000419481.1:n.410-741C>G | |
| ENST00000487825.5:c.413-741C>G | ENSP00000418212.1:n.413-741C>G | |
| ENST00000491747.6:c.788-741C>G | ENSP00000420705.2:n.788-741C>G | |
| ENST00000493795.5:c.3617C>G | ENSP00000418775.1:p.Ser1206Cys | |
| ENST00000493919.5:c.647-741C>G | ENSP00000418819.1:n.647-741C>G | |
| ENST00000586385.5:c.5-27822C>G | ENSP00000465818.1:n.5-27822C>G | |
| ENST00000591534.5:c.-43-17252C>G | ENSP00000467329.1:n.-43-17252C>G | |
| ENST00000591849.5:c.-99+33498C>G | ENSP00000465347.1:n.-99+33498C>G | |
| NM_007294.3:c.3758C>G , LRG_292t1:c.3758C>G | NP_009225.1:p.Ser1253Cys | |
| NM_007297.3:c.3617C>G | NP_009228.2:p.Ser1206Cys | |
| NM_007298.3:c.788-741C>G | NP_009229.2:n.788-741C>G | |
| NM_007299.3:c.788-741C>G | NP_009230.2:n.788-741C>G | |
| NM_007300.3:c.3758C>G | NP_009231.2:p.Ser1253Cys | |
| NR_027676.1:n.3894C>G | ||
| NM_007294.4:c.3758C>G MANE Select | NP_009225.1:p.Ser1253Cys | |
| NM_007297.4:c.3617C>G | NP_009228.2:p.Ser1206Cys | |
| NM_007299.4:c.788-741C>G | NP_009230.2:n.788-741C>G | |
| NM_007300.4:c.3758C>G | NP_009231.2:p.Ser1253Cys | |
| NR_027676.2:n.3935C>G |