Linked Data
ClinVar Variation Id:
1743910
ClinVar RCV Id:
RCV002332396
MyVariant Identifiers:
chr15:g.41011056G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40718858G>A , CM000677.2:g.40718858G>A | GRCh38 |
| NC_000015.9:g.41011056G>A , CM000677.1:g.41011056G>A | GRCh37 |
| NC_000015.8:g.38798348G>A | NCBI36 |
| NG_012120.1:g.28698G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267868.8:c.489G>A MANE Select | ENSP00000267868.3:p.Glu163= | |
| ENST00000532743.6:c.489G>A | ENSP00000433924.2:p.Glu163= | |
| ENST00000645673.2:c.492G>A | ENSP00000493712.2:p.Glu164= | |
| ENST00000267868.7:c.489G>A | ENSP00000267868.3:p.Glu163= | |
| ENST00000382643.7:c.492G>A | ENSP00000372088.3:p.Glu164= | |
| ENST00000423169.6:c.489G>A | ENSP00000406602.2:p.Glu163= | |
| ENST00000525066.5:c.435+9742G>A | ENSP00000431864.1:n.435+9742G>A | |
| ENST00000527860.5:c.489G>A | ENSP00000432759.1:p.Glu163= | |
| ENST00000531277.2:c.*68G>A | ENSP00000436512.2:n.*68G>A | |
| ENST00000532743.5:c.492G>A | ENSP00000433924.1:p.Glu164= | |
| ENST00000557850.5:c.226-28G>A | ENSP00000454176.1:n.226-28G>A | |
| NM_001164269.1:c.492G>A | NP_001157741.1:p.Glu164= | |
| NM_001164270.1:c.489G>A | NP_001157742.1:p.Glu163= | |
| NM_002875.4:c.489G>A | NP_002866.2:p.Glu163= | |
| NM_133487.3:c.492G>A | NP_597994.3:p.Glu164= | |
| XM_006720626.2:c.489G>A | XP_006720689.1:p.Glu163= | |
| XM_011521857.1:c.489G>A | XP_011520159.1:p.Glu163= | |
| XM_011521858.1:c.489G>A | XP_011520160.1:p.Glu163= | |
| XM_011521859.1:c.489G>A | XP_011520161.1:p.Glu163= | |
| XM_011521860.1:c.489G>A | XP_011520162.1:p.Glu163= | |
| XM_011521861.1:c.489G>A | XP_011520163.1:p.Glu163= | |
| XM_011521862.1:c.117G>A | XP_011520164.1:p.Glu39= | |
| XM_006720626.3:c.489G>A | XP_006720689.1:p.Glu163= | |
| XM_011521857.2:c.489G>A | XP_011520159.1:p.Glu163= | |
| XM_011521858.2:c.489G>A | XP_011520160.1:p.Glu163= | |
| XM_011521859.2:c.489G>A | XP_011520161.1:p.Glu163= | |
| XM_011521860.2:c.489G>A | XP_011520162.1:p.Glu163= | |
| XM_011521861.2:c.489G>A | XP_011520163.1:p.Glu163= | |
| XM_011521862.3:c.117G>A | XP_011520164.1:p.Glu39= | |
| NM_001164269.2:c.492G>A | NP_001157741.1:p.Glu164= | |
| NM_001164270.2:c.489G>A | NP_001157742.1:p.Glu163= | |
| NM_002875.5:c.489G>A MANE Select | NP_002866.2:p.Glu163= | |
| NM_133487.4:c.492G>A | NP_597994.3:p.Glu164= |