Linked Data
ClinVar Variation Id:
1740493
ClinVar RCV Id:
RCV002333912
MyVariant Identifiers:
chr17:g.41228567A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076550A>C , CM000679.2:g.43076550A>C | GRCh38 |
| NC_000017.10:g.41228567A>C , CM000679.1:g.41228567A>C | GRCh37 |
| NC_000017.9:g.38482093A>C | NCBI36 |
| NG_005905.2:g.141434T>G , LRG_292:g.141434T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4419T>G | ENSP00000417241.2:p.Ala1473= | |
| ENST00000470026.6:c.4422T>G | ENSP00000419274.2:p.Ala1474= | |
| ENST00000473961.6:c.4296T>G | ENSP00000420201.2:p.Ala1432= | |
| ENST00000476777.6:c.4416T>G | ENSP00000417554.2:p.Ala1472= | |
| ENST00000477152.6:c.4344T>G | ENSP00000419988.2:p.Ala1448= | |
| ENST00000478531.6:c.1110T>G | ENSP00000420412.2:p.Ala370= | |
| ENST00000489037.2:c.4344T>G | ENSP00000420781.2:p.Ala1448= | |
| ENST00000493919.6:c.972T>G | ENSP00000418819.2:p.Ala324= | |
| ENST00000494123.6:c.4422T>G | ENSP00000419103.2:p.Ala1474= | |
| ENST00000497488.2:c.3534T>G | ENSP00000418986.2:p.Ala1178= | |
| ENST00000618469.2:c.4422T>G | ENSP00000478114.2:p.Ala1474= | |
| ENST00000634433.2:c.4299T>G | ENSP00000489431.2:p.Ala1433= | |
| ENST00000644379.2:c.4488T>G | ENSP00000496570.2:p.Ala1496= | |
| ENST00000644555.2:c.972T>G | ENSP00000494614.2:p.Ala324= | |
| ENST00000652672.2:c.4281T>G | ENSP00000498906.2:p.Ala1427= | |
| ENST00000484087.6:c.984T>G | ENSP00000419481.2:p.Ala328= | |
| ENST00000700182.1:c.1029T>G | ENSP00000514849.1:p.Ala343= | |
| ENST00000357654.9:c.4422T>G MANE Select | ENSP00000350283.3:p.Ala1474= | |
| ENST00000471181.7:c.4485T>G | ENSP00000418960.2:p.Ala1495= | |
| ENST00000644379.1:c.809T>G | ||
| ENST00000352993.7:c.996T>G | ENSP00000312236.5:p.Ala332= | |
| ENST00000357654.7:c.4422T>G | ENSP00000350283.3:p.Ala1474= | |
| ENST00000461221.5:c.*4205T>G | ENSP00000418548.1:n.*4205T>G | |
| ENST00000461574.1:c.713T>G | ||
| ENST00000468300.5:c.1110T>G | ENSP00000417148.1:p.Ala370= | |
| ENST00000471181.6:c.4485T>G | ENSP00000418960.2:p.Ala1495= | |
| ENST00000478531.5:c.1110T>G | ENSP00000420412.1:p.Ala370= | |
| ENST00000484087.5:c.735T>G | ENSP00000419481.1:p.Ala245= | |
| ENST00000487825.5:c.738T>G | ENSP00000418212.1:p.Ala246= | |
| ENST00000491747.6:c.1110T>G | ENSP00000420705.2:p.Ala370= | |
| ENST00000493795.5:c.4281T>G | ENSP00000418775.1:p.Ala1427= | |
| ENST00000493919.5:c.972T>G | ENSP00000418819.1:p.Ala324= | |
| ENST00000586385.5:c.5-12599T>G | ENSP00000465818.1:n.5-12599T>G | |
| ENST00000591534.5:c.-43-2029T>G | ENSP00000467329.1:n.-43-2029T>G | |
| ENST00000591849.5:c.-98-26360T>G | ENSP00000465347.1:n.-98-26360T>G | |
| ENST00000621897.1:n.313T>G | ||
| NM_007294.3:c.4422T>G , LRG_292t1:c.4422T>G | NP_009225.1:p.Ala1474= | |
| NM_007297.3:c.4281T>G | NP_009228.2:p.Ala1427= | |
| NM_007298.3:c.1110T>G | NP_009229.2:p.Ala370= | |
| NM_007299.3:c.1110T>G | NP_009230.2:p.Ala370= | |
| NM_007300.3:c.4485T>G | NP_009231.2:p.Ala1495= | |
| NR_027676.1:n.4558T>G | ||
| NM_007294.4:c.4422T>G MANE Select | NP_009225.1:p.Ala1474= | |
| NM_007297.4:c.4281T>G | NP_009228.2:p.Ala1427= | |
| NM_007299.4:c.1110T>G | NP_009230.2:p.Ala370= | |
| NM_007300.4:c.4485T>G | NP_009231.2:p.Ala1495= | |
| NR_027676.2:n.4599T>G |