Linked Data
ClinVar Variation Id:
427343
dbSNP Id:
rs752824502
ExAC:
17:41234446 A / G
gnomAD v2:
17-41234446-A-G
gnomAD v3:
17-43082429-A-G
gnomAD v4:
17-43082429-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082429A>G , CM000679.2:g.43082429A>G | GRCh38 |
| NC_000017.10:g.41234446A>G , CM000679.1:g.41234446A>G | GRCh37 |
| NC_000017.9:g.38487972A>G | NCBI36 |
| NG_005905.2:g.135555T>C , LRG_292:g.135555T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4332T>C | ENSP00000417241.2:p.Asn1444= | |
| ENST00000470026.6:c.4332T>C | ENSP00000419274.2:p.Asn1444= | |
| ENST00000473961.6:c.4206T>C | ENSP00000420201.2:p.Asn1402= | |
| ENST00000476777.6:c.4326T>C | ENSP00000417554.2:p.Asn1442= | |
| ENST00000477152.6:c.4254T>C | ENSP00000419988.2:p.Asn1418= | |
| ENST00000478531.6:c.1020T>C | ENSP00000420412.2:p.Asn340= | |
| ENST00000489037.2:c.4254T>C | ENSP00000420781.2:p.Asn1418= | |
| ENST00000493919.6:c.882T>C | ENSP00000418819.2:p.Asn294= | |
| ENST00000494123.6:c.4332T>C | ENSP00000419103.2:p.Asn1444= | |
| ENST00000497488.2:c.3444T>C | ENSP00000418986.2:p.Asn1148= | |
| ENST00000618469.2:c.4332T>C | ENSP00000478114.2:p.Asn1444= | |
| ENST00000634433.2:c.4209T>C | ENSP00000489431.2:p.Asn1403= | |
| ENST00000644379.2:c.4332T>C | ENSP00000496570.2:p.Asn1444= | |
| ENST00000644555.2:c.882T>C | ENSP00000494614.2:p.Asn294= | |
| ENST00000652672.2:c.4191T>C | ENSP00000498906.2:p.Asn1397= | |
| ENST00000484087.6:c.897T>C | ENSP00000419481.2:p.Asn299= | |
| ENST00000700182.1:c.942T>C | ENSP00000514849.1:p.Asn314= | |
| ENST00000357654.9:c.4332T>C MANE Select | ENSP00000350283.3:p.Asn1444= | |
| ENST00000471181.7:c.4332T>C | ENSP00000418960.2:p.Asn1444= | |
| ENST00000644379.1:c.653T>C | ||
| ENST00000352993.7:c.906T>C | ENSP00000312236.5:p.Asn302= | |
| ENST00000357654.7:c.4332T>C | ENSP00000350283.3:p.Asn1444= | |
| ENST00000461221.5:c.*4115T>C | ENSP00000418548.1:n.*4115T>C | |
| ENST00000461574.1:c.626T>C | ||
| ENST00000468300.5:c.1023T>C | ENSP00000417148.1:p.Asn341= | |
| ENST00000471181.6:c.4332T>C | ENSP00000418960.2:p.Asn1444= | |
| ENST00000478531.5:c.1020T>C | ENSP00000420412.1:p.Asn340= | |
| ENST00000484087.5:c.645T>C | ENSP00000419481.1:p.Asn215= | |
| ENST00000487825.5:c.648T>C | ENSP00000418212.1:p.Asn216= | |
| ENST00000491747.6:c.1023T>C | ENSP00000420705.2:p.Asn341= | |
| ENST00000493795.5:c.4191T>C | ENSP00000418775.1:p.Asn1397= | |
| ENST00000493919.5:c.882T>C | ENSP00000418819.1:p.Asn294= | |
| ENST00000586385.5:c.5-18478T>C | ENSP00000465818.1:n.5-18478T>C | |
| ENST00000591534.5:c.-43-7908T>C | ENSP00000467329.1:n.-43-7908T>C | |
| ENST00000591849.5:c.-98-32239T>C | ENSP00000465347.1:n.-98-32239T>C | |
| ENST00000621897.1:n.226T>C | ||
| NM_007294.3:c.4332T>C , LRG_292t1:c.4332T>C | NP_009225.1:p.Asn1444= | |
| NM_007297.3:c.4191T>C | NP_009228.2:p.Asn1397= | |
| NM_007298.3:c.1023T>C | NP_009229.2:p.Asn341= | |
| NM_007299.3:c.1023T>C | NP_009230.2:p.Asn341= | |
| NM_007300.3:c.4332T>C | NP_009231.2:p.Asn1444= | |
| NR_027676.1:n.4468T>C | ||
| NM_007294.4:c.4332T>C MANE Select | NP_009225.1:p.Asn1444= | |
| NM_007297.4:c.4191T>C | NP_009228.2:p.Asn1397= | |
| NM_007299.4:c.1023T>C | NP_009230.2:p.Asn341= | |
| NM_007300.4:c.4332T>C | NP_009231.2:p.Asn1444= | |
| NR_027676.2:n.4509T>C |