Linked Data
ClinVar Variation Id:
55309
dbSNP Id:
rs273901742
gnomAD v2:
17-41223039-C-T
gnomAD v4:
17-43071022-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43071022C>T , CM000679.2:g.43071022C>T | GRCh38 |
| NC_000017.10:g.41223039C>T , CM000679.1:g.41223039C>T | GRCh37 |
| NC_000017.9:g.38476565C>T | NCBI36 |
| NG_005905.2:g.146962G>A , LRG_292:g.146962G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4889G>A | ENSP00000417241.2:p.Ser1630Asn | |
| ENST00000470026.6:c.4892G>A | ENSP00000419274.2:p.Ser1631Asn | |
| ENST00000473961.6:c.4766G>A | ENSP00000420201.2:p.Ser1589Asn | |
| ENST00000476777.6:c.4886G>A | ENSP00000417554.2:p.Ser1629Asn | |
| ENST00000477152.6:c.4814G>A | ENSP00000419988.2:p.Ser1605Asn | |
| ENST00000478531.6:c.1580G>A | ENSP00000420412.2:p.Ser527Asn | |
| ENST00000489037.2:c.4814G>A | ENSP00000420781.2:p.Ser1605Asn | |
| ENST00000493919.6:c.1442G>A | ENSP00000418819.2:p.Ser481Asn | |
| ENST00000494123.6:c.4892G>A | ENSP00000419103.2:p.Ser1631Asn | |
| ENST00000497488.2:c.4004G>A | ENSP00000418986.2:p.Ser1335Asn | |
| ENST00000618469.2:c.4892G>A | ENSP00000478114.2:p.Ser1631Asn | |
| ENST00000634433.2:c.4769G>A | ENSP00000489431.2:p.Ser1590Asn | |
| ENST00000644379.2:c.4958G>A | ENSP00000496570.2:p.Ser1653Asn | |
| ENST00000644555.2:c.1442G>A | ENSP00000494614.2:p.Ser481Asn | |
| ENST00000652672.2:c.4751G>A | ENSP00000498906.2:p.Ser1584Asn | |
| ENST00000484087.6:c.1454G>A | ENSP00000419481.2:p.Ser485Asn | |
| ENST00000700182.1:c.1499G>A | ENSP00000514849.1:p.Ser500Asn | |
| ENST00000357654.9:c.4892G>A MANE Select | ENSP00000350283.3:p.Ser1631Asn | |
| ENST00000471181.7:c.4955G>A | ENSP00000418960.2:p.Ser1652Asn | |
| ENST00000644379.1:c.1279G>A | ||
| ENST00000352993.7:c.1466G>A | ENSP00000312236.5:p.Ser489Asn | |
| ENST00000357654.7:c.4892G>A | ENSP00000350283.3:p.Ser1631Asn | |
| ENST00000461221.5:c.*4675G>A | ENSP00000418548.1:n.*4675G>A | |
| ENST00000468300.5:c.1580G>A | ENSP00000417148.1:p.Ser527Asn | |
| ENST00000471181.6:c.4955G>A | ENSP00000418960.2:p.Ser1652Asn | |
| ENST00000472490.1:n.45G>A | ||
| ENST00000478531.5:c.1580G>A | ENSP00000420412.1:p.Ser527Asn | |
| ENST00000484087.5:c.1205G>A | ENSP00000419481.1:p.Ser402Asn | |
| ENST00000491747.6:c.1580G>A | ENSP00000420705.2:p.Ser527Asn | |
| ENST00000493795.5:c.4751G>A | ENSP00000418775.1:p.Ser1584Asn | |
| ENST00000493919.5:c.1442G>A | ENSP00000418819.1:p.Ser481Asn | |
| ENST00000586385.5:c.5-7071G>A | ENSP00000465818.1:n.5-7071G>A | |
| ENST00000591534.5:c.365G>A | ENSP00000467329.1:p.Ser122Asn | |
| ENST00000591849.5:c.-98-20832G>A | ENSP00000465347.1:n.-98-20832G>A | |
| NM_007294.3:c.4892G>A , LRG_292t1:c.4892G>A | NP_009225.1:p.Ser1631Asn | |
| NM_007297.3:c.4751G>A | NP_009228.2:p.Ser1584Asn | |
| NM_007298.3:c.1580G>A | NP_009229.2:p.Ser527Asn | |
| NM_007299.3:c.1580G>A | NP_009230.2:p.Ser527Asn | |
| NM_007300.3:c.4955G>A | NP_009231.2:p.Ser1652Asn | |
| NR_027676.1:n.5028G>A | ||
| NM_007294.4:c.4892G>A MANE Select | NP_009225.1:p.Ser1631Asn | |
| NM_007297.4:c.4751G>A | NP_009228.2:p.Ser1584Asn | |
| NM_007299.4:c.1580G>A | NP_009230.2:p.Ser527Asn | |
| NM_007300.4:c.4955G>A | NP_009231.2:p.Ser1652Asn | |
| NR_027676.2:n.5069G>A |