Linked Data
ClinVar Variation Id:
55105
dbSNP Id:
rs55848034
gnomAD v2:
17-41243031-C-T
gnomAD v3:
17-43091014-C-T
gnomAD v4:
17-43091014-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091014C>T , CM000679.2:g.43091014C>T | GRCh38 |
| NC_000017.10:g.41243031C>T , CM000679.1:g.41243031C>T | GRCh37 |
| NC_000017.9:g.38496557C>T | NCBI36 |
| NG_005905.2:g.126970G>A , LRG_292:g.126970G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4115G>A | ENSP00000417241.2:p.Cys1372Tyr | |
| ENST00000470026.6:c.4115G>A | ENSP00000419274.2:p.Cys1372Tyr | |
| ENST00000473961.6:c.3989G>A | ENSP00000420201.2:p.Cys1330Tyr | |
| ENST00000476777.6:c.4112G>A | ENSP00000417554.2:p.Cys1371Tyr | |
| ENST00000477152.6:c.4037G>A | ENSP00000419988.2:p.Cys1346Tyr | |
| ENST00000478531.6:c.803G>A | ENSP00000420412.2:p.Cys268Tyr | |
| ENST00000489037.2:c.4037G>A | ENSP00000420781.2:p.Cys1346Tyr | |
| ENST00000493919.6:c.665G>A | ENSP00000418819.2:p.Cys222Tyr | |
| ENST00000494123.6:c.4115G>A | ENSP00000419103.2:p.Cys1372Tyr | |
| ENST00000497488.2:c.3227G>A | ENSP00000418986.2:p.Cys1076Tyr | |
| ENST00000618469.2:c.4115G>A | ENSP00000478114.2:p.Cys1372Tyr | |
| ENST00000634433.2:c.3992G>A | ENSP00000489431.2:p.Cys1331Tyr | |
| ENST00000644379.2:c.4115G>A | ENSP00000496570.2:p.Cys1372Tyr | |
| ENST00000644555.2:c.665G>A | ENSP00000494614.2:p.Cys222Tyr | |
| ENST00000652672.2:c.3974G>A | ENSP00000498906.2:p.Cys1325Tyr | |
| ENST00000484087.6:c.683G>A | ENSP00000419481.2:p.Cys228Tyr | |
| ENST00000700182.1:c.725G>A | ENSP00000514849.1:p.Cys242Tyr | |
| ENST00000357654.9:c.4115G>A MANE Select | ENSP00000350283.3:p.Cys1372Tyr | |
| ENST00000471181.7:c.4115G>A | ENSP00000418960.2:p.Cys1372Tyr | |
| ENST00000644379.1:c.436G>A | ||
| ENST00000352993.7:c.689G>A | ENSP00000312236.5:p.Cys230Tyr | |
| ENST00000357654.7:c.4115G>A | ENSP00000350283.3:p.Cys1372Tyr | |
| ENST00000461221.5:c.*3898G>A | ENSP00000418548.1:n.*3898G>A | |
| ENST00000461574.1:c.409G>A | ||
| ENST00000468300.5:c.806G>A | ENSP00000417148.1:p.Cys269Tyr | |
| ENST00000471181.6:c.4115G>A | ENSP00000418960.2:p.Cys1372Tyr | |
| ENST00000478531.5:c.803G>A | ENSP00000420412.1:p.Cys268Tyr | |
| ENST00000484087.5:c.428G>A | ENSP00000419481.1:p.Cys143Tyr | |
| ENST00000487825.5:c.431G>A | ENSP00000418212.1:p.Cys144Tyr | |
| ENST00000491747.6:c.806G>A | ENSP00000420705.2:p.Cys269Tyr | |
| ENST00000493795.5:c.3974G>A | ENSP00000418775.1:p.Cys1325Tyr | |
| ENST00000493919.5:c.665G>A | ENSP00000418819.1:p.Cys222Tyr | |
| ENST00000586385.5:c.5-27063G>A | ENSP00000465818.1:n.5-27063G>A | |
| ENST00000591534.5:c.-43-16493G>A | ENSP00000467329.1:n.-43-16493G>A | |
| ENST00000591849.5:c.-99+34257G>A | ENSP00000465347.1:n.-99+34257G>A | |
| NM_007294.3:c.4115G>A , LRG_292t1:c.4115G>A | NP_009225.1:p.Cys1372Tyr | |
| NM_007297.3:c.3974G>A | NP_009228.2:p.Cys1325Tyr | |
| NM_007298.3:c.806G>A | NP_009229.2:p.Cys269Tyr | |
| NM_007299.3:c.806G>A | NP_009230.2:p.Cys269Tyr | |
| NM_007300.3:c.4115G>A | NP_009231.2:p.Cys1372Tyr | |
| NR_027676.1:n.4251G>A | ||
| NM_007294.4:c.4115G>A MANE Select | NP_009225.1:p.Cys1372Tyr | |
| NM_007297.4:c.3974G>A | NP_009228.2:p.Cys1325Tyr | |
| NM_007299.4:c.806G>A | NP_009230.2:p.Cys269Tyr | |
| NM_007300.4:c.4115G>A | NP_009231.2:p.Cys1372Tyr | |
| NR_027676.2:n.4292G>A |