Linked Data
ClinVar Variation Id:
55119
dbSNP Id:
rs78951648
ExAC:
17:41242980 C / T
gnomAD v2:
17-41242980-C-T
gnomAD v3:
17-43090963-C-T
gnomAD v4:
17-43090963-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43090963C>T , CM000679.2:g.43090963C>T | GRCh38 |
| NC_000017.10:g.41242980C>T , CM000679.1:g.41242980C>T | GRCh37 |
| NC_000017.9:g.38496506C>T | NCBI36 |
| NG_005905.2:g.127021G>A , LRG_292:g.127021G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4166G>A | ENSP00000417241.2:p.Ser1389Asn | |
| ENST00000470026.6:c.4166G>A | ENSP00000419274.2:p.Ser1389Asn | |
| ENST00000473961.6:c.4040G>A | ENSP00000420201.2:p.Ser1347Asn | |
| ENST00000476777.6:c.4163G>A | ENSP00000417554.2:p.Ser1388Asn | |
| ENST00000477152.6:c.4088G>A | ENSP00000419988.2:p.Ser1363Asn | |
| ENST00000478531.6:c.854G>A | ENSP00000420412.2:p.Ser285Asn | |
| ENST00000489037.2:c.4088G>A | ENSP00000420781.2:p.Ser1363Asn | |
| ENST00000493919.6:c.716G>A | ENSP00000418819.2:p.Ser239Asn | |
| ENST00000494123.6:c.4166G>A | ENSP00000419103.2:p.Ser1389Asn | |
| ENST00000497488.2:c.3278G>A | ENSP00000418986.2:p.Ser1093Asn | |
| ENST00000618469.2:c.4166G>A | ENSP00000478114.2:p.Ser1389Asn | |
| ENST00000634433.2:c.4043G>A | ENSP00000489431.2:p.Ser1348Asn | |
| ENST00000644379.2:c.4166G>A | ENSP00000496570.2:p.Ser1389Asn | |
| ENST00000644555.2:c.716G>A | ENSP00000494614.2:p.Ser239Asn | |
| ENST00000652672.2:c.4025G>A | ENSP00000498906.2:p.Ser1342Asn | |
| ENST00000484087.6:c.734G>A | ENSP00000419481.2:p.Ser245Asn | |
| ENST00000700182.1:c.776G>A | ENSP00000514849.1:p.Ser259Asn | |
| ENST00000357654.9:c.4166G>A MANE Select | ENSP00000350283.3:p.Ser1389Asn | |
| ENST00000471181.7:c.4166G>A | ENSP00000418960.2:p.Ser1389Asn | |
| ENST00000644379.1:c.487G>A | ||
| ENST00000352993.7:c.740G>A | ENSP00000312236.5:p.Ser247Asn | |
| ENST00000357654.7:c.4166G>A | ENSP00000350283.3:p.Ser1389Asn | |
| ENST00000461221.5:c.*3949G>A | ENSP00000418548.1:n.*3949G>A | |
| ENST00000461574.1:c.460G>A | ||
| ENST00000468300.5:c.857G>A | ENSP00000417148.1:p.Ser286Asn | |
| ENST00000471181.6:c.4166G>A | ENSP00000418960.2:p.Ser1389Asn | |
| ENST00000478531.5:c.854G>A | ENSP00000420412.1:p.Ser285Asn | |
| ENST00000484087.5:c.479G>A | ENSP00000419481.1:p.Ser160Asn | |
| ENST00000487825.5:c.482G>A | ENSP00000418212.1:p.Ser161Asn | |
| ENST00000491747.6:c.857G>A | ENSP00000420705.2:p.Ser286Asn | |
| ENST00000493795.5:c.4025G>A | ENSP00000418775.1:p.Ser1342Asn | |
| ENST00000493919.5:c.716G>A | ENSP00000418819.1:p.Ser239Asn | |
| ENST00000586385.5:c.5-27012G>A | ENSP00000465818.1:n.5-27012G>A | |
| ENST00000591534.5:c.-43-16442G>A | ENSP00000467329.1:n.-43-16442G>A | |
| ENST00000591849.5:c.-99+34308G>A | ENSP00000465347.1:n.-99+34308G>A | |
| NM_007294.3:c.4166G>A , LRG_292t1:c.4166G>A | NP_009225.1:p.Ser1389Asn | |
| NM_007297.3:c.4025G>A | NP_009228.2:p.Ser1342Asn | |
| NM_007298.3:c.857G>A | NP_009229.2:p.Ser286Asn | |
| NM_007299.3:c.857G>A | NP_009230.2:p.Ser286Asn | |
| NM_007300.3:c.4166G>A | NP_009231.2:p.Ser1389Asn | |
| NR_027676.1:n.4302G>A | ||
| NM_007294.4:c.4166G>A MANE Select | NP_009225.1:p.Ser1389Asn | |
| NM_007297.4:c.4025G>A | NP_009228.2:p.Ser1342Asn | |
| NM_007299.4:c.857G>A | NP_009230.2:p.Ser286Asn | |
| NM_007300.4:c.4166G>A | NP_009231.2:p.Ser1389Asn | |
| NR_027676.2:n.4343G>A |