Canonical Allele Identifier: CA228500
Gene: VWF HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition von Willebrand disease type 2B
VCEP von Willebrand Disease VCEP
MyVariant.info:
GRCh38 chr12:g.6019477A>T
GRCh37 chr12:g.6128643A>T
Revel Score:
ENST00000261405 (MANE Select) 0.761
ClinVar RCV:
RCV000086711
ClinVar Variation:
100309
dbSNP:
61749394
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019477A>T , CM000674.2:g.6019477A>T GRCh38
NC_000012.11:g.6128643A>T , CM000674.1:g.6128643A>T GRCh37
NC_000012.10:g.5998904A>T NCBI36
NG_009072.1:g.110194T>A
NG_009072.2:g.110194T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3941T>A MANE Select ENSP00000261405.5:p.Val1314Asp
ENST00000261405.9:c.3941T>A ENSP00000261405.5:p.Val1314Asp
ENST00000538635.5:n.421-25543T>A
NM_000552.3:c.3941T>A NP_000543.2:p.Val1314Asp
NM_000552.4:c.3941T>A NP_000543.2:p.Val1314Asp
NM_000552.5:c.3941T>A MANE Select NP_000543.3:p.Val1314Asp
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