ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
hereditary von Willebrand disease
Revel Score:
ENST00000261405 (MANE Select)
0.340
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00836834 (AFR)
Genomes Max Group AF
0.00750945 (AFR)
Exomes Max Group AF
0.00892353 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5985605G>A , CM000674.2:g.5985605G>A | GRCh38 |
| NC_000012.11:g.6094771G>A , CM000674.1:g.6094771G>A | GRCh37 |
| NC_000012.10:g.5965032G>A | NCBI36 |
| NG_009072.1:g.144066C>T | |
| NG_009072.2:g.144066C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.6859C>T MANE Select | ENSP00000261405.5:p.Arg2287Trp | |
| ENST00000261405.9:c.6859C>T | ENSP00000261405.5:p.Arg2287Trp | |
| NM_000552.3:c.6859C>T | NP_000543.2:p.Arg2287Trp | |
| NM_000552.4:c.6859C>T | NP_000543.2:p.Arg2287Trp | |
| NM_000552.5:c.6859C>T MANE Select | NP_000543.3:p.Arg2287Trp |