Canonical Allele Identifier: CA114149
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 301
ClinVar RCV Id: RCV000000328 RCV000086679 RCV002243607
dbSNP Id: rs61749372
MyVariant Identifiers: chr12:g.6128770A>G (hg19) chr12:g.6019604A>G (hg38)
PubMed: PMID:1419804 PMID:20409624
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019604A>G , CM000674.2:g.6019604A>G GRCh38
NC_000012.11:g.6128770A>G , CM000674.1:g.6128770A>G GRCh37
NC_000012.10:g.5999031A>G NCBI36
NG_009072.1:g.110067T>C
NG_009072.2:g.110067T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3814T>C MANE Select ENSP00000261405.5:p.Cys1272Arg
ENST00000261405.9:c.3814T>C ENSP00000261405.5:p.Cys1272Arg
ENST00000538635.5:n.421-25670T>C
ENST00000539641.1:n.612T>C
NM_000552.3:c.3814T>C NP_000543.2:p.Cys1272Arg
NM_000552.4:c.3814T>C NP_000543.2:p.Cys1272Arg
NM_000552.5:c.3814T>C MANE Select NP_000543.3:p.Cys1272Arg
Search 100 bp 5'
Search 100 bp 3'