Linked Data
ClinVar Variation Id:
206418
dbSNP Id:
rs796052857
gnomAD v2:
19-50364722-C-T
gnomAD v3:
19-49861465-C-T
gnomAD v4:
19-49861465-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861465C>T , CM000681.2:g.49861465C>T | GRCh38 |
| NC_000019.9:g.50364722C>T , CM000681.1:g.50364722C>T | GRCh37 |
| NC_000019.8:g.55056534C>T | NCBI36 |
| NG_027717.1:g.11101G>A | |
| NG_050666.1:g.17622C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1432G>A MANE Select | ENSP00000323511.2:p.Val478Ile | |
| ENST00000636840.1:c.59+143G>A | ||
| ENST00000640501.1:c.38G>A | ||
| ENST00000322344.7:c.1432G>A | ENSP00000323511.2:p.Val478Ile | |
| ENST00000593946.5:c.*1359G>A | ENSP00000468896.1:n.*1359G>A | |
| ENST00000594661.5:n.1933G>A | ||
| ENST00000595081.5:n.335G>A | ||
| ENST00000596014.5:c.1432G>A | ENSP00000472300.1:p.Val478Ile | |
| ENST00000597965.2:c.139G>A | ENSP00000471097.2:p.Val47Ile | |
| ENST00000599454.5:n.352G>A | ||
| ENST00000600573.5:c.1339G>A | ENSP00000469826.1:p.Val447Ile | |
| ENST00000600910.5:c.1322G>A | ENSP00000473137.1:p.Gly441Asp | |
| ENST00000601816.3:n.504G>A | ||
| ENST00000625216.2:c.513G>A | ENSP00000486898.1:n.513G>A | |
| ENST00000627232.2:c.1352G>A | ENSP00000486037.1:n.1352G>A | |
| ENST00000631020.2:c.1324G>A | ENSP00000486707.1:p.Val442Ile | |
| NM_007254.3:c.1432G>A | NP_009185.2:p.Val478Ile | |
| NM_007254.4:c.1432G>A MANE Select | NP_009185.2:p.Val478Ile |