Linked Data
ClinVar Variation Id:
589516
dbSNP Id:
rs778893834
ExAC:
19:50364867 G / A
gnomAD v2:
19-50364867-G-A
gnomAD v4:
19-49861610-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861610G>A , CM000681.2:g.49861610G>A | GRCh38 |
| NC_000019.9:g.50364867G>A , CM000681.1:g.50364867G>A | GRCh37 |
| NC_000019.8:g.55056679G>A | NCBI36 |
| NG_027717.1:g.10956C>T | |
| NG_050666.1:g.17767G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1384C>T MANE Select | ENSP00000323511.2:p.Arg462Trp | |
| ENST00000636840.1:c.57C>T | ||
| ENST00000322344.7:c.1384C>T | ENSP00000323511.2:p.Arg462Trp | |
| ENST00000593946.5:c.*1311C>T | ENSP00000468896.1:n.*1311C>T | |
| ENST00000594661.5:n.1885C>T | ||
| ENST00000595081.5:n.287C>T | ||
| ENST00000596014.5:c.1384C>T | ENSP00000472300.1:p.Arg462Trp | |
| ENST00000597965.2:c.91C>T | ENSP00000471097.2:p.Arg31Trp | |
| ENST00000599454.5:n.304C>T | ||
| ENST00000600573.5:c.1291C>T | ENSP00000469826.1:p.Arg431Trp | |
| ENST00000600910.5:c.1274C>T | ENSP00000473137.1:p.Pro425Leu | |
| ENST00000601816.3:n.359C>T | ||
| ENST00000625216.2:c.465C>T | ENSP00000486898.1:n.465C>T | |
| ENST00000627232.2:c.1304C>T | ENSP00000486037.1:n.1304C>T | |
| ENST00000631020.2:c.1276C>T | ENSP00000486707.1:p.Arg426Trp | |
| NM_007254.3:c.1384C>T | NP_009185.2:p.Arg462Trp | |
| NM_007254.4:c.1384C>T MANE Select | NP_009185.2:p.Arg462Trp |