Linked Data
ClinVar Variation Id:
472452
dbSNP Id:
rs570531959
ExAC:
3:128205667 C / A
gnomAD v2:
3-128205667-C-A
gnomAD v3:
3-128486824-C-A
gnomAD v4:
3-128486824-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128486824C>A , CM000665.2:g.128486824C>A | GRCh38 |
| NC_000003.11:g.128205667C>A , CM000665.1:g.128205667C>A | GRCh37 |
| NC_000003.10:g.129688357C>A | NCBI36 |
| NG_029334.1:g.11364G>T , LRG_295:g.11364G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.208G>T MANE Plus Clinical | ENSP00000417074.1:p.Val70Phe | |
| ENST00000696466.1:c.490G>T | ENSP00000512647.1:p.Val164Phe | |
| ENST00000696652.1:c.208G>T | ENSP00000512781.1:p.Val70Phe | |
| ENST00000696653.1:c.208G>T | ENSP00000512782.1:p.Val70Phe | |
| ENST00000696654.1:c.208G>T | ENSP00000512783.1:p.Val70Phe | |
| ENST00000696661.1:c.208G>T | ENSP00000512787.1:p.Val70Phe | |
| ENST00000341105.7:c.208G>T MANE Select | ENSP00000345681.2:p.Val70Phe | |
| ENST00000341105.6:c.208G>T | ENSP00000345681.2:p.Val70Phe | |
| ENST00000430265.6:c.208G>T | ENSP00000400259.2:p.Val70Phe | |
| ENST00000487848.5:c.208G>T | ENSP00000417074.1:p.Val70Phe | |
| ENST00000492608.1:c.208G>T | ENSP00000418132.1:p.Val70Phe | |
| NM_001145661.1:c.208G>T , LRG_295t1:c.208G>T | NP_001139133.1:p.Val70Phe | |
| NM_001145662.1:c.208G>T | NP_001139134.1:p.Val70Phe | |
| NM_032638.4:c.208G>T , LRG_295t2:c.208G>T | NP_116027.2:p.Val70Phe | |
| NM_001145661.2:c.208G>T MANE Plus Clinical | NP_001139133.1:p.Val70Phe | |
| NM_032638.5:c.208G>T MANE Select | NP_116027.2:p.Val70Phe |