Linked Data
ClinVar Variation Id:
2159140
ClinVar RCV Id:
RCV003072657
gnomAD v4:
3-128481316-A-T
MyVariant Identifiers:
chr3:g.128200159A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481316A>T , CM000665.2:g.128481316A>T | GRCh38 |
| NC_000003.11:g.128200159A>T , CM000665.1:g.128200159A>T | GRCh37 |
| NC_000003.10:g.129682849A>T | NCBI36 |
| NG_029334.1:g.16872T>A , LRG_295:g.16872T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1146T>A MANE Plus Clinical | ENSP00000417074.1:p.Val382= | |
| ENST00000696466.1:c.1428T>A | ENSP00000512647.1:p.Val476= | |
| ENST00000696672.1:c.127-6T>A | ENSP00000512796.1:n.127-6T>A | |
| ENST00000341105.7:c.1146T>A MANE Select | ENSP00000345681.2:p.Val382= | |
| ENST00000341105.6:c.1146T>A | ENSP00000345681.2:p.Val382= | |
| ENST00000430265.6:c.1104T>A | ENSP00000400259.2:p.Val368= | |
| ENST00000487848.5:c.1146T>A | ENSP00000417074.1:p.Val382= | |
| ENST00000489987.1:n.263T>A | ||
| NM_001145661.1:c.1146T>A , LRG_295t1:c.1146T>A | NP_001139133.1:p.Val382= | |
| NM_001145662.1:c.1104T>A | NP_001139134.1:p.Val368= | |
| NM_032638.4:c.1146T>A , LRG_295t2:c.1146T>A | NP_116027.2:p.Val382= | |
| NM_001145661.2:c.1146T>A MANE Plus Clinical | NP_001139133.1:p.Val382= | |
| NM_032638.5:c.1146T>A MANE Select | NP_116027.2:p.Val382= |