Linked Data
ClinVar Variation Id:
309568
ClinVar RCV Id:
RCV000278442
dbSNP Id:
rs150390099
gnomAD v3:
12-52519916-G-T
gnomAD v4:
12-52519916-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519916G>T , CM000674.2:g.52519916G>T | GRCh38 |
| NC_000012.11:g.52913700G>T , CM000674.1:g.52913700G>T | GRCh37 |
| NC_000012.10:g.51199967G>T | NCBI36 |
| NG_008297.1:g.5544C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.381C>A MANE Select | ENSP00000252242.4:p.Phe127Leu | |
| ENST00000252242.8:c.381C>A | ENSP00000252242.4:p.Phe127Leu | |
| ENST00000546577.1:c.381C>A | ENSP00000449651.1:p.Phe127Leu | |
| ENST00000549420.1:c.51C>A | ENSP00000447209.1:p.Phe17Leu | |
| ENST00000551275.1:c.276C>A | ENSP00000448041.1:p.Phe92Leu | |
| ENST00000552629.5:n.479C>A | ||
| NM_000424.3:c.381C>A | NP_000415.2:p.Phe127Leu | |
| NM_000424.4:c.381C>A MANE Select | NP_000415.2:p.Phe127Leu |