Linked Data
ClinVar Variation Id:
41827
ClinVar RCV Id:
RCV000034753
RCV000048672
RCV000128996
RCV000119096
RCV000112410
RCV000120260
RCV000767866
RCV001269364
RCV002477059
dbSNP Id:
rs1799966
ExAC:
17:41223094 T / C
gnomAD v2:
17-41223094-T-C
gnomAD v3:
17-43071077-T-C
gnomAD v4:
17-43071077-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43071077T>C , CM000679.2:g.43071077T>C | GRCh38 |
| NC_000017.10:g.41223094T>C , CM000679.1:g.41223094T>C | GRCh37 |
| NC_000017.9:g.38476620T>C | NCBI36 |
| NG_005905.2:g.146907A>G , LRG_292:g.146907A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4834A>G | ENSP00000417241.2:p.Ser1612Gly | |
| ENST00000470026.6:c.4837A>G | ENSP00000419274.2:p.Ser1613Gly | |
| ENST00000473961.6:c.4711A>G | ENSP00000420201.2:p.Ser1571Gly | |
| ENST00000476777.6:c.4831A>G | ENSP00000417554.2:p.Ser1611Gly | |
| ENST00000477152.6:c.4759A>G | ENSP00000419988.2:p.Ser1587Gly | |
| ENST00000478531.6:c.1525A>G | ENSP00000420412.2:p.Ser509Gly | |
| ENST00000489037.2:c.4759A>G | ENSP00000420781.2:p.Ser1587Gly | |
| ENST00000493919.6:c.1387A>G | ENSP00000418819.2:p.Ser463Gly | |
| ENST00000494123.6:c.4837A>G | ENSP00000419103.2:p.Ser1613Gly | |
| ENST00000497488.2:c.3949A>G | ENSP00000418986.2:p.Ser1317Gly | |
| ENST00000618469.2:c.4837A>G | ENSP00000478114.2:p.Ser1613Gly | |
| ENST00000634433.2:c.4714A>G | ENSP00000489431.2:p.Ser1572Gly | |
| ENST00000644379.2:c.4903A>G | ENSP00000496570.2:p.Ser1635Gly | |
| ENST00000644555.2:c.1387A>G | ENSP00000494614.2:p.Ser463Gly | |
| ENST00000652672.2:c.4696A>G | ENSP00000498906.2:p.Ser1566Gly | |
| ENST00000484087.6:c.1399A>G | ENSP00000419481.2:p.Ser467Gly | |
| ENST00000700182.1:c.1444A>G | ENSP00000514849.1:p.Ser482Gly | |
| ENST00000357654.9:c.4837A>G MANE Select | ENSP00000350283.3:p.Ser1613Gly | |
| ENST00000471181.7:c.4900A>G | ENSP00000418960.2:p.Ser1634Gly | |
| ENST00000644379.1:c.1224A>G | ||
| ENST00000352993.7:c.1411A>G | ENSP00000312236.5:p.Ser471Gly | |
| ENST00000357654.7:c.4837A>G | ENSP00000350283.3:p.Ser1613Gly | |
| ENST00000461221.5:c.*4620A>G | ENSP00000418548.1:n.*4620A>G | |
| ENST00000468300.5:c.1525A>G | ENSP00000417148.1:p.Ser509Gly | |
| ENST00000471181.6:c.4900A>G | ENSP00000418960.2:p.Ser1634Gly | |
| ENST00000478531.5:c.1525A>G | ENSP00000420412.1:p.Ser509Gly | |
| ENST00000484087.5:c.1150A>G | ENSP00000419481.1:p.Ser384Gly | |
| ENST00000491747.6:c.1525A>G | ENSP00000420705.2:p.Ser509Gly | |
| ENST00000493795.5:c.4696A>G | ENSP00000418775.1:p.Ser1566Gly | |
| ENST00000493919.5:c.1387A>G | ENSP00000418819.1:p.Ser463Gly | |
| ENST00000586385.5:c.5-7126A>G | ENSP00000465818.1:n.5-7126A>G | |
| ENST00000591534.5:c.310A>G | ENSP00000467329.1:p.Ser104Gly | |
| ENST00000591849.5:c.-98-20887A>G | ENSP00000465347.1:n.-98-20887A>G | |
| NM_007294.3:c.4837A>G , LRG_292t1:c.4837A>G | NP_009225.1:p.Ser1613Gly | |
| NM_007297.3:c.4696A>G | NP_009228.2:p.Ser1566Gly | |
| NM_007298.3:c.1525A>G | NP_009229.2:p.Ser509Gly | |
| NM_007299.3:c.1525A>G | NP_009230.2:p.Ser509Gly | |
| NM_007300.3:c.4900A>G | NP_009231.2:p.Ser1634Gly | |
| NR_027676.1:n.4973A>G | ||
| NM_007294.4:c.4837A>G MANE Select | NP_009225.1:p.Ser1613Gly | |
| NM_007297.4:c.4696A>G | NP_009228.2:p.Ser1566Gly | |
| NM_007299.4:c.1525A>G | NP_009230.2:p.Ser509Gly | |
| NM_007300.4:c.4900A>G | NP_009231.2:p.Ser1634Gly | |
| NR_027676.2:n.5014A>G |