Linked Data
ClinVar Variation Id:
185731
dbSNP Id:
rs756281673
ExAC:
17:41228567 A / G
gnomAD v2:
17-41228567-A-G
gnomAD v3:
17-43076550-A-G
gnomAD v4:
17-43076550-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076550A>G , CM000679.2:g.43076550A>G | GRCh38 |
| NC_000017.10:g.41228567A>G , CM000679.1:g.41228567A>G | GRCh37 |
| NC_000017.9:g.38482093A>G | NCBI36 |
| NG_005905.2:g.141434T>C , LRG_292:g.141434T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4419T>C | ENSP00000417241.2:p.Ala1473= | |
| ENST00000470026.6:c.4422T>C | ENSP00000419274.2:p.Ala1474= | |
| ENST00000473961.6:c.4296T>C | ENSP00000420201.2:p.Ala1432= | |
| ENST00000476777.6:c.4416T>C | ENSP00000417554.2:p.Ala1472= | |
| ENST00000477152.6:c.4344T>C | ENSP00000419988.2:p.Ala1448= | |
| ENST00000478531.6:c.1110T>C | ENSP00000420412.2:p.Ala370= | |
| ENST00000489037.2:c.4344T>C | ENSP00000420781.2:p.Ala1448= | |
| ENST00000493919.6:c.972T>C | ENSP00000418819.2:p.Ala324= | |
| ENST00000494123.6:c.4422T>C | ENSP00000419103.2:p.Ala1474= | |
| ENST00000497488.2:c.3534T>C | ENSP00000418986.2:p.Ala1178= | |
| ENST00000618469.2:c.4422T>C | ENSP00000478114.2:p.Ala1474= | |
| ENST00000634433.2:c.4299T>C | ENSP00000489431.2:p.Ala1433= | |
| ENST00000644379.2:c.4488T>C | ENSP00000496570.2:p.Ala1496= | |
| ENST00000644555.2:c.972T>C | ENSP00000494614.2:p.Ala324= | |
| ENST00000652672.2:c.4281T>C | ENSP00000498906.2:p.Ala1427= | |
| ENST00000484087.6:c.984T>C | ENSP00000419481.2:p.Ala328= | |
| ENST00000700182.1:c.1029T>C | ENSP00000514849.1:p.Ala343= | |
| ENST00000357654.9:c.4422T>C MANE Select | ENSP00000350283.3:p.Ala1474= | |
| ENST00000471181.7:c.4485T>C | ENSP00000418960.2:p.Ala1495= | |
| ENST00000644379.1:c.809T>C | ||
| ENST00000352993.7:c.996T>C | ENSP00000312236.5:p.Ala332= | |
| ENST00000357654.7:c.4422T>C | ENSP00000350283.3:p.Ala1474= | |
| ENST00000461221.5:c.*4205T>C | ENSP00000418548.1:n.*4205T>C | |
| ENST00000461574.1:c.713T>C | ||
| ENST00000468300.5:c.1110T>C | ENSP00000417148.1:p.Ala370= | |
| ENST00000471181.6:c.4485T>C | ENSP00000418960.2:p.Ala1495= | |
| ENST00000478531.5:c.1110T>C | ENSP00000420412.1:p.Ala370= | |
| ENST00000484087.5:c.735T>C | ENSP00000419481.1:p.Ala245= | |
| ENST00000487825.5:c.738T>C | ENSP00000418212.1:p.Ala246= | |
| ENST00000491747.6:c.1110T>C | ENSP00000420705.2:p.Ala370= | |
| ENST00000493795.5:c.4281T>C | ENSP00000418775.1:p.Ala1427= | |
| ENST00000493919.5:c.972T>C | ENSP00000418819.1:p.Ala324= | |
| ENST00000586385.5:c.5-12599T>C | ENSP00000465818.1:n.5-12599T>C | |
| ENST00000591534.5:c.-43-2029T>C | ENSP00000467329.1:n.-43-2029T>C | |
| ENST00000591849.5:c.-98-26360T>C | ENSP00000465347.1:n.-98-26360T>C | |
| ENST00000621897.1:n.313T>C | ||
| NM_007294.3:c.4422T>C , LRG_292t1:c.4422T>C | NP_009225.1:p.Ala1474= | |
| NM_007297.3:c.4281T>C | NP_009228.2:p.Ala1427= | |
| NM_007298.3:c.1110T>C | NP_009229.2:p.Ala370= | |
| NM_007299.3:c.1110T>C | NP_009230.2:p.Ala370= | |
| NM_007300.3:c.4485T>C | NP_009231.2:p.Ala1495= | |
| NR_027676.1:n.4558T>C | ||
| NM_007294.4:c.4422T>C MANE Select | NP_009225.1:p.Ala1474= | |
| NM_007297.4:c.4281T>C | NP_009228.2:p.Ala1427= | |
| NM_007299.4:c.1110T>C | NP_009230.2:p.Ala370= | |
| NM_007300.4:c.4485T>C | NP_009231.2:p.Ala1495= | |
| NR_027676.2:n.4599T>C |