Linked Data
ClinVar Variation Id:
1348409
ClinVar RCV Id:
RCV002044300
dbSNP Id:
rs2147283722
gnomAD v4:
19-55154803-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154803C>T , CM000681.2:g.55154803C>T | GRCh38 |
| NC_000019.9:g.55666171C>T , CM000681.1:g.55666171C>T | GRCh37 |
| NC_000019.8:g.60357983C>T | NCBI36 |
| NG_007866.2:g.7930G>A , LRG_432:g.7930G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.310G>A MANE Select | ENSP00000341838.5:p.Val104Met | |
| ENST00000665070.1:c.310G>A | ENSP00000499482.1:p.Val104Met | |
| ENST00000344887.9:c.310G>A | ENSP00000341838.5:p.Val104Met | |
| ENST00000585806.5:n.309G>A | ||
| ENST00000586669.5:n.318G>A | ||
| ENST00000587176.5:n.494G>A | ||
| ENST00000587871.1:c.929G>A | ||
| ENST00000588882.1:c.235G>A | ENSP00000466729.1:p.Val79Met | |
| ENST00000590463.1:n.482G>A | ||
| NM_000363.4:c.310G>A , LRG_432t1:c.310G>A | NP_000354.4:p.Val104Met | |
| NM_000363.5:c.310G>A MANE Select | NP_000354.4:p.Val104Met |