Linked Data
ClinVar Variation Id:
206398
dbSNP Id:
rs772727116
ExAC:
19:50365665 C / T
gnomAD v2:
19-50365665-C-T
gnomAD v4:
19-49862408-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49862408C>T , CM000681.2:g.49862408C>T | GRCh38 |
| NC_000019.9:g.50365665C>T , CM000681.1:g.50365665C>T | GRCh37 |
| NC_000019.8:g.55057477C>T | NCBI36 |
| NG_027717.1:g.10158G>A | |
| NG_050666.1:g.18565C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322344.8:c.992G>A MANE Select | ENSP00000323511.2:p.Trp331Ter | |
| ENST00000322344.7:c.992G>A | ENSP00000323511.2:p.Trp331Ter | |
| ENST00000593706.3:n.347G>A | ||
| ENST00000593946.5:c.*919G>A | ENSP00000468896.1:n.*919G>A | |
| ENST00000594661.5:n.1493G>A | ||
| ENST00000596014.5:c.992G>A | ENSP00000472300.1:p.Trp331Ter | |
| ENST00000600573.5:c.937-127G>A | ENSP00000469826.1:n.937-127G>A | |
| ENST00000600910.5:c.992G>A | ENSP00000473137.1:p.Trp331Ter | |
| ENST00000625216.2:c.170G>A | ENSP00000486898.1:p.Trp57Ter | |
| ENST00000627232.2:c.912G>A | ENSP00000486037.1:n.912G>A | |
| ENST00000627317.1:c.613G>A | ||
| ENST00000629179.1:n.763G>A | ||
| ENST00000631020.2:c.884G>A | ENSP00000486707.1:p.Trp295Ter | |
| NM_007254.3:c.992G>A | NP_009185.2:p.Trp331Ter | |
| NM_007254.4:c.992G>A MANE Select | NP_009185.2:p.Trp331Ter |