Canonical Allele Identifier: CA6402959
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 1336650
ClinVar RCV Id: RCV001817605 RCV002489873 RCV003389883
dbSNP Id: rs35191786
ExAC: 12:6140691 T / G
gnomAD v2: 12-6140691-T-G
gnomAD v3: 12-6031525-T-G
gnomAD v4: 12-6031525-T-G
MyVariant Identifiers: chr12:g.6140691T>G (hg19) chr12:g.6031525T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031525T>G , CM000674.2:g.6031525T>G GRCh38
NC_000012.11:g.6140691T>G , CM000674.1:g.6140691T>G GRCh37
NC_000012.10:g.6010952T>G NCBI36
NG_009072.1:g.98146A>C
NG_009072.2:g.98146A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2739A>C MANE Select ENSP00000261405.5:p.Gly913=
ENST00000261405.9:c.2739A>C ENSP00000261405.5:p.Gly913=
ENST00000538635.5:n.421-37591A>C
NM_000552.3:c.2739A>C NP_000543.2:p.Gly913=
NM_000552.4:c.2739A>C NP_000543.2:p.Gly913=
NM_000552.5:c.2739A>C MANE Select NP_000543.3:p.Gly913=
Search 100 bp 5'
Search 100 bp 3'