Canonical Allele Identifier: CA114147
Gene: VWF HGNC NCBI
ClinGen Classification:
Classification Pathogenic
Condition von Willebrand disease type 2M
VCEP von Willebrand Disease VCEP
ClinVar RCV:
RCV000000327
RCV000086716
RCV003447468
ClinVar Variation:
300
dbSNP:
61749398
gnomAD v2:
12:6128614 C / T
gnomAD v3:
12:6019448 C / T
gnomAD v4:
chr12-6019448-C-T
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 8.4e-7 (NFE)
MyVariant.info:
GRCh38 chr12:g.6019448C>T
GRCh37 chr12:g.6128614C>T
Revel Score:
ENST00000261405 (MANE Select) 0.718
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019448C>T , CM000674.2:g.6019448C>T GRCh38
NC_000012.11:g.6128614C>T , CM000674.1:g.6128614C>T GRCh37
NC_000012.10:g.5998875C>T NCBI36
NG_009072.1:g.110223G>A
NG_009072.2:g.110223G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3970G>A MANE Select ENSP00000261405.5:p.Gly1324Ser
ENST00000261405.9:c.3970G>A ENSP00000261405.5:p.Gly1324Ser
ENST00000538635.5:n.421-25514G>A
NM_000552.3:c.3970G>A NP_000543.2:p.Gly1324Ser
NM_000552.4:c.3970G>A NP_000543.2:p.Gly1324Ser
NM_000552.5:c.3970G>A MANE Select NP_000543.3:p.Gly1324Ser
Search 100 bp 5'
Search 100 bp 3'