Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154761C>A , CM000681.2:g.55154761C>A | GRCh38 |
| NC_000019.9:g.55666129C>A , CM000681.1:g.55666129C>A | GRCh37 |
| NC_000019.8:g.60357941C>A | NCBI36 |
| NG_007866.2:g.7972G>T , LRG_432:g.7972G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.352G>T MANE Select | ENSP00000341838.5:p.Val118Phe | |
| ENST00000665070.1:c.352G>T | ENSP00000499482.1:p.Val118Phe | |
| ENST00000344887.9:c.352G>T | ENSP00000341838.5:p.Val118Phe | |
| ENST00000585806.5:n.351G>T | ||
| ENST00000586669.5:n.360G>T | ||
| ENST00000587176.5:n.536G>T | ||
| ENST00000587871.1:c.971G>T | ||
| ENST00000588882.1:c.277G>T | ENSP00000466729.1:p.Val93Phe | |
| ENST00000590463.1:n.524G>T | ||
| NM_000363.4:c.352G>T , LRG_432t1:c.352G>T | NP_000354.4:p.Val118Phe | |
| NM_000363.5:c.352G>T MANE Select | NP_000354.4:p.Val118Phe |