Linked Data
ClinVar Variation Id:
55279
dbSNP Id:
rs80357070
gnomAD v3:
17-43071164-C-A
gnomAD v4:
17-43071164-C-A
PubMed:
PMID:10923033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43071164C>A , CM000679.2:g.43071164C>A | GRCh38 |
| NC_000017.10:g.41223181C>A , CM000679.1:g.41223181C>A | GRCh37 |
| NC_000017.9:g.38476707C>A | NCBI36 |
| NG_005905.2:g.146820G>T , LRG_292:g.146820G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.4747G>T | ENSP00000417241.2:p.Ala1583Ser | |
| ENST00000470026.6:c.4750G>T | ENSP00000419274.2:p.Ala1584Ser | |
| ENST00000473961.6:c.4624G>T | ENSP00000420201.2:p.Ala1542Ser | |
| ENST00000476777.6:c.4744G>T | ENSP00000417554.2:p.Ala1582Ser | |
| ENST00000477152.6:c.4672G>T | ENSP00000419988.2:p.Ala1558Ser | |
| ENST00000478531.6:c.1438G>T | ENSP00000420412.2:p.Ala480Ser | |
| ENST00000489037.2:c.4672G>T | ENSP00000420781.2:p.Ala1558Ser | |
| ENST00000493919.6:c.1300G>T | ENSP00000418819.2:p.Ala434Ser | |
| ENST00000494123.6:c.4750G>T | ENSP00000419103.2:p.Ala1584Ser | |
| ENST00000497488.2:c.3862G>T | ENSP00000418986.2:p.Ala1288Ser | |
| ENST00000618469.2:c.4750G>T | ENSP00000478114.2:p.Ala1584Ser | |
| ENST00000634433.2:c.4627G>T | ENSP00000489431.2:p.Ala1543Ser | |
| ENST00000644379.2:c.4816G>T | ENSP00000496570.2:p.Ala1606Ser | |
| ENST00000644555.2:c.1300G>T | ENSP00000494614.2:p.Ala434Ser | |
| ENST00000652672.2:c.4609G>T | ENSP00000498906.2:p.Ala1537Ser | |
| ENST00000484087.6:c.1312G>T | ENSP00000419481.2:p.Ala438Ser | |
| ENST00000700182.1:c.1357G>T | ENSP00000514849.1:p.Ala453Ser | |
| ENST00000357654.9:c.4750G>T MANE Select | ENSP00000350283.3:p.Ala1584Ser | |
| ENST00000471181.7:c.4813G>T | ENSP00000418960.2:p.Ala1605Ser | |
| ENST00000644379.1:c.1137G>T | ||
| ENST00000352993.7:c.1324G>T | ENSP00000312236.5:p.Ala442Ser | |
| ENST00000357654.7:c.4750G>T | ENSP00000350283.3:p.Ala1584Ser | |
| ENST00000461221.5:c.*4533G>T | ENSP00000418548.1:n.*4533G>T | |
| ENST00000468300.5:c.1438G>T | ENSP00000417148.1:p.Ala480Ser | |
| ENST00000471181.6:c.4813G>T | ENSP00000418960.2:p.Ala1605Ser | |
| ENST00000478531.5:c.1438G>T | ENSP00000420412.1:p.Ala480Ser | |
| ENST00000484087.5:c.1063G>T | ENSP00000419481.1:p.Ala355Ser | |
| ENST00000491747.6:c.1438G>T | ENSP00000420705.2:p.Ala480Ser | |
| ENST00000493795.5:c.4609G>T | ENSP00000418775.1:p.Ala1537Ser | |
| ENST00000493919.5:c.1300G>T | ENSP00000418819.1:p.Ala434Ser | |
| ENST00000586385.5:c.5-7213G>T | ENSP00000465818.1:n.5-7213G>T | |
| ENST00000591534.5:c.223G>T | ENSP00000467329.1:p.Ala75Ser | |
| ENST00000591849.5:c.-98-20974G>T | ENSP00000465347.1:n.-98-20974G>T | |
| NM_007294.3:c.4750G>T , LRG_292t1:c.4750G>T | NP_009225.1:p.Ala1584Ser | |
| NM_007297.3:c.4609G>T | NP_009228.2:p.Ala1537Ser | |
| NM_007298.3:c.1438G>T | NP_009229.2:p.Ala480Ser | |
| NM_007299.3:c.1438G>T | NP_009230.2:p.Ala480Ser | |
| NM_007300.3:c.4813G>T | NP_009231.2:p.Ala1605Ser | |
| NR_027676.1:n.4886G>T | ||
| NM_007294.4:c.4750G>T MANE Select | NP_009225.1:p.Ala1584Ser | |
| NM_007297.4:c.4609G>T | NP_009228.2:p.Ala1537Ser | |
| NM_007299.4:c.1438G>T | NP_009230.2:p.Ala480Ser | |
| NM_007300.4:c.4813G>T | NP_009231.2:p.Ala1605Ser | |
| NR_027676.2:n.4927G>T |