Linked Data
ClinVar Variation Id:
252880
dbSNP Id:
rs768327850
ExAC:
17:41234505 G / A
gnomAD v2:
17-41234505-G-A
gnomAD v4:
17-43082488-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082488G>A , CM000679.2:g.43082488G>A | GRCh38 |
| NC_000017.10:g.41234505G>A , CM000679.1:g.41234505G>A | GRCh37 |
| NC_000017.9:g.38488031G>A | NCBI36 |
| NG_005905.2:g.135496C>T , LRG_292:g.135496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4273C>T | ENSP00000417241.2:p.Pro1425Ser | |
| ENST00000470026.6:c.4273C>T | ENSP00000419274.2:p.Pro1425Ser | |
| ENST00000473961.6:c.4147C>T | ENSP00000420201.2:p.Pro1383Ser | |
| ENST00000476777.6:c.4267C>T | ENSP00000417554.2:p.Pro1423Ser | |
| ENST00000477152.6:c.4195C>T | ENSP00000419988.2:p.Pro1399Ser | |
| ENST00000478531.6:c.961C>T | ENSP00000420412.2:p.Pro321Ser | |
| ENST00000489037.2:c.4195C>T | ENSP00000420781.2:p.Pro1399Ser | |
| ENST00000493919.6:c.823C>T | ENSP00000418819.2:p.Pro275Ser | |
| ENST00000494123.6:c.4273C>T | ENSP00000419103.2:p.Pro1425Ser | |
| ENST00000497488.2:c.3385C>T | ENSP00000418986.2:p.Pro1129Ser | |
| ENST00000618469.2:c.4273C>T | ENSP00000478114.2:p.Pro1425Ser | |
| ENST00000634433.2:c.4150C>T | ENSP00000489431.2:p.Pro1384Ser | |
| ENST00000644379.2:c.4273C>T | ENSP00000496570.2:p.Pro1425Ser | |
| ENST00000644555.2:c.823C>T | ENSP00000494614.2:p.Pro275Ser | |
| ENST00000652672.2:c.4132C>T | ENSP00000498906.2:p.Pro1378Ser | |
| ENST00000484087.6:c.838C>T | ENSP00000419481.2:p.Pro280Ser | |
| ENST00000700182.1:c.883C>T | ENSP00000514849.1:p.Pro295Ser | |
| ENST00000357654.9:c.4273C>T MANE Select | ENSP00000350283.3:p.Pro1425Ser | |
| ENST00000471181.7:c.4273C>T | ENSP00000418960.2:p.Pro1425Ser | |
| ENST00000644379.1:c.594C>T | ||
| ENST00000352993.7:c.847C>T | ENSP00000312236.5:p.Pro283Ser | |
| ENST00000357654.7:c.4273C>T | ENSP00000350283.3:p.Pro1425Ser | |
| ENST00000461221.5:c.*4056C>T | ENSP00000418548.1:n.*4056C>T | |
| ENST00000461574.1:c.567C>T | ||
| ENST00000468300.5:c.964C>T | ENSP00000417148.1:p.Pro322Ser | |
| ENST00000471181.6:c.4273C>T | ENSP00000418960.2:p.Pro1425Ser | |
| ENST00000478531.5:c.961C>T | ENSP00000420412.1:p.Pro321Ser | |
| ENST00000484087.5:c.586C>T | ENSP00000419481.1:p.Pro196Ser | |
| ENST00000487825.5:c.589C>T | ENSP00000418212.1:p.Pro197Ser | |
| ENST00000491747.6:c.964C>T | ENSP00000420705.2:p.Pro322Ser | |
| ENST00000493795.5:c.4132C>T | ENSP00000418775.1:p.Pro1378Ser | |
| ENST00000493919.5:c.823C>T | ENSP00000418819.1:p.Pro275Ser | |
| ENST00000586385.5:c.5-18537C>T | ENSP00000465818.1:n.5-18537C>T | |
| ENST00000591534.5:c.-43-7967C>T | ENSP00000467329.1:n.-43-7967C>T | |
| ENST00000591849.5:c.-98-32298C>T | ENSP00000465347.1:n.-98-32298C>T | |
| ENST00000621897.1:n.167C>T | ||
| NM_007294.3:c.4273C>T , LRG_292t1:c.4273C>T | NP_009225.1:p.Pro1425Ser | |
| NM_007297.3:c.4132C>T | NP_009228.2:p.Pro1378Ser | |
| NM_007298.3:c.964C>T | NP_009229.2:p.Pro322Ser | |
| NM_007299.3:c.964C>T | NP_009230.2:p.Pro322Ser | |
| NM_007300.3:c.4273C>T | NP_009231.2:p.Pro1425Ser | |
| NR_027676.1:n.4409C>T | ||
| NM_007294.4:c.4273C>T MANE Select | NP_009225.1:p.Pro1425Ser | |
| NM_007297.4:c.4132C>T | NP_009228.2:p.Pro1378Ser | |
| NM_007299.4:c.964C>T | NP_009230.2:p.Pro322Ser | |
| NM_007300.4:c.4273C>T | NP_009231.2:p.Pro1425Ser | |
| NR_027676.2:n.4450C>T |