Linked Data
ClinVar Variation Id:
1740577
ClinVar RCV Id:
RCV002328228
dbSNP Id:
rs1555582594
MyVariant Identifiers:
chr17:g.41228555C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076538C>T , CM000679.2:g.43076538C>T | GRCh38 |
| NC_000017.10:g.41228555C>T , CM000679.1:g.41228555C>T | GRCh37 |
| NC_000017.9:g.38482081C>T | NCBI36 |
| NG_005905.2:g.141446G>A , LRG_292:g.141446G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4431G>A | ENSP00000417241.2:p.Glu1477= | |
| ENST00000470026.6:c.4434G>A | ENSP00000419274.2:p.Glu1478= | |
| ENST00000473961.6:c.4308G>A | ENSP00000420201.2:p.Glu1436= | |
| ENST00000476777.6:c.4428G>A | ENSP00000417554.2:p.Glu1476= | |
| ENST00000477152.6:c.4356G>A | ENSP00000419988.2:p.Glu1452= | |
| ENST00000478531.6:c.1122G>A | ENSP00000420412.2:p.Glu374= | |
| ENST00000489037.2:c.4356G>A | ENSP00000420781.2:p.Glu1452= | |
| ENST00000493919.6:c.984G>A | ENSP00000418819.2:p.Glu328= | |
| ENST00000494123.6:c.4434G>A | ENSP00000419103.2:p.Glu1478= | |
| ENST00000497488.2:c.3546G>A | ENSP00000418986.2:p.Glu1182= | |
| ENST00000618469.2:c.4434G>A | ENSP00000478114.2:p.Glu1478= | |
| ENST00000634433.2:c.4311G>A | ENSP00000489431.2:p.Glu1437= | |
| ENST00000644379.2:c.4500G>A | ENSP00000496570.2:p.Glu1500= | |
| ENST00000644555.2:c.984G>A | ENSP00000494614.2:p.Glu328= | |
| ENST00000652672.2:c.4293G>A | ENSP00000498906.2:p.Glu1431= | |
| ENST00000484087.6:c.996G>A | ENSP00000419481.2:p.Glu332= | |
| ENST00000700182.1:c.1041G>A | ENSP00000514849.1:p.Glu347= | |
| ENST00000357654.9:c.4434G>A MANE Select | ENSP00000350283.3:p.Glu1478= | |
| ENST00000471181.7:c.4497G>A | ENSP00000418960.2:p.Glu1499= | |
| ENST00000644379.1:c.821G>A | ||
| ENST00000352993.7:c.1008G>A | ENSP00000312236.5:p.Glu336= | |
| ENST00000357654.7:c.4434G>A | ENSP00000350283.3:p.Glu1478= | |
| ENST00000461221.5:c.*4217G>A | ENSP00000418548.1:n.*4217G>A | |
| ENST00000461574.1:c.725G>A | ||
| ENST00000468300.5:c.1122G>A | ENSP00000417148.1:p.Glu374= | |
| ENST00000471181.6:c.4497G>A | ENSP00000418960.2:p.Glu1499= | |
| ENST00000478531.5:c.1122G>A | ENSP00000420412.1:p.Glu374= | |
| ENST00000484087.5:c.747G>A | ENSP00000419481.1:p.Glu249= | |
| ENST00000487825.5:c.750G>A | ENSP00000418212.1:p.Glu250= | |
| ENST00000491747.6:c.1122G>A | ENSP00000420705.2:p.Glu374= | |
| ENST00000493795.5:c.4293G>A | ENSP00000418775.1:p.Glu1431= | |
| ENST00000493919.5:c.984G>A | ENSP00000418819.1:p.Glu328= | |
| ENST00000586385.5:c.5-12587G>A | ENSP00000465818.1:n.5-12587G>A | |
| ENST00000591534.5:c.-43-2017G>A | ENSP00000467329.1:n.-43-2017G>A | |
| ENST00000591849.5:c.-98-26348G>A | ENSP00000465347.1:n.-98-26348G>A | |
| ENST00000621897.1:n.325G>A | ||
| NM_007294.3:c.4434G>A , LRG_292t1:c.4434G>A | NP_009225.1:p.Glu1478= | |
| NM_007297.3:c.4293G>A | NP_009228.2:p.Glu1431= | |
| NM_007298.3:c.1122G>A | NP_009229.2:p.Glu374= | |
| NM_007299.3:c.1122G>A | NP_009230.2:p.Glu374= | |
| NM_007300.3:c.4497G>A | NP_009231.2:p.Glu1499= | |
| NR_027676.1:n.4570G>A | ||
| NM_007294.4:c.4434G>A MANE Select | NP_009225.1:p.Glu1478= | |
| NM_007297.4:c.4293G>A | NP_009228.2:p.Glu1431= | |
| NM_007299.4:c.1122G>A | NP_009230.2:p.Glu374= | |
| NM_007300.4:c.4497G>A | NP_009231.2:p.Glu1499= | |
| NR_027676.2:n.4611G>A |