Linked Data
ClinVar Variation Id:
182096
dbSNP Id:
rs730881455
gnomAD v2:
17-41228570-A-T
gnomAD v3:
17-43076553-A-T
gnomAD v4:
17-43076553-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076553A>T , CM000679.2:g.43076553A>T | GRCh38 |
| NC_000017.10:g.41228570A>T , CM000679.1:g.41228570A>T | GRCh37 |
| NC_000017.9:g.38482096A>T | NCBI36 |
| NG_005905.2:g.141431T>A , LRG_292:g.141431T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4416T>A | ENSP00000417241.2:p.Ser1472= | |
| ENST00000470026.6:c.4419T>A | ENSP00000419274.2:p.Ser1473= | |
| ENST00000473961.6:c.4293T>A | ENSP00000420201.2:p.Ser1431= | |
| ENST00000476777.6:c.4413T>A | ENSP00000417554.2:p.Ser1471= | |
| ENST00000477152.6:c.4341T>A | ENSP00000419988.2:p.Ser1447= | |
| ENST00000478531.6:c.1107T>A | ENSP00000420412.2:p.Ser369= | |
| ENST00000489037.2:c.4341T>A | ENSP00000420781.2:p.Ser1447= | |
| ENST00000493919.6:c.969T>A | ENSP00000418819.2:p.Ser323= | |
| ENST00000494123.6:c.4419T>A | ENSP00000419103.2:p.Ser1473= | |
| ENST00000497488.2:c.3531T>A | ENSP00000418986.2:p.Ser1177= | |
| ENST00000618469.2:c.4419T>A | ENSP00000478114.2:p.Ser1473= | |
| ENST00000634433.2:c.4296T>A | ENSP00000489431.2:p.Ser1432= | |
| ENST00000644379.2:c.4485T>A | ENSP00000496570.2:p.Ser1495= | |
| ENST00000644555.2:c.969T>A | ENSP00000494614.2:p.Ser323= | |
| ENST00000652672.2:c.4278T>A | ENSP00000498906.2:p.Ser1426= | |
| ENST00000484087.6:c.981T>A | ENSP00000419481.2:p.Ser327= | |
| ENST00000700182.1:c.1026T>A | ENSP00000514849.1:p.Ser342= | |
| ENST00000357654.9:c.4419T>A MANE Select | ENSP00000350283.3:p.Ser1473= | |
| ENST00000471181.7:c.4482T>A | ENSP00000418960.2:p.Ser1494= | |
| ENST00000644379.1:c.806T>A | ||
| ENST00000352993.7:c.993T>A | ENSP00000312236.5:p.Ser331= | |
| ENST00000357654.7:c.4419T>A | ENSP00000350283.3:p.Ser1473= | |
| ENST00000461221.5:c.*4202T>A | ENSP00000418548.1:n.*4202T>A | |
| ENST00000461574.1:c.710T>A | ||
| ENST00000468300.5:c.1107T>A | ENSP00000417148.1:p.Ser369= | |
| ENST00000471181.6:c.4482T>A | ENSP00000418960.2:p.Ser1494= | |
| ENST00000478531.5:c.1107T>A | ENSP00000420412.1:p.Ser369= | |
| ENST00000484087.5:c.732T>A | ENSP00000419481.1:p.Ser244= | |
| ENST00000487825.5:c.735T>A | ENSP00000418212.1:p.Ser245= | |
| ENST00000491747.6:c.1107T>A | ENSP00000420705.2:p.Ser369= | |
| ENST00000493795.5:c.4278T>A | ENSP00000418775.1:p.Ser1426= | |
| ENST00000493919.5:c.969T>A | ENSP00000418819.1:p.Ser323= | |
| ENST00000586385.5:c.5-12602T>A | ENSP00000465818.1:n.5-12602T>A | |
| ENST00000591534.5:c.-43-2032T>A | ENSP00000467329.1:n.-43-2032T>A | |
| ENST00000591849.5:c.-98-26363T>A | ENSP00000465347.1:n.-98-26363T>A | |
| ENST00000621897.1:n.310T>A | ||
| NM_007294.3:c.4419T>A , LRG_292t1:c.4419T>A | NP_009225.1:p.Ser1473= | |
| NM_007297.3:c.4278T>A | NP_009228.2:p.Ser1426= | |
| NM_007298.3:c.1107T>A | NP_009229.2:p.Ser369= | |
| NM_007299.3:c.1107T>A | NP_009230.2:p.Ser369= | |
| NM_007300.3:c.4482T>A | NP_009231.2:p.Ser1494= | |
| NR_027676.1:n.4555T>A | ||
| NM_007294.4:c.4419T>A MANE Select | NP_009225.1:p.Ser1473= | |
| NM_007297.4:c.4278T>A | NP_009228.2:p.Ser1426= | |
| NM_007299.4:c.1107T>A | NP_009230.2:p.Ser369= | |
| NM_007300.4:c.4482T>A | NP_009231.2:p.Ser1494= | |
| NR_027676.2:n.4596T>A |