Canonical Allele Identifier: CA6402791
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs767478373
ExAC: 12:6132931 T / C
gnomAD v2: 12-6132931-T-C
gnomAD v4: 12-6023765-T-C
MyVariant Identifiers: chr12:g.6132931T>C (hg19) chr12:g.6023765T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023765T>C , CM000674.2:g.6023765T>C GRCh38
NC_000012.11:g.6132931T>C , CM000674.1:g.6132931T>C GRCh37
NC_000012.10:g.6003192T>C NCBI36
NG_009072.1:g.105906A>G
NG_009072.2:g.105906A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3245A>G MANE Select ENSP00000261405.5:p.Asp1082Gly
ENST00000261405.9:c.3245A>G ENSP00000261405.5:p.Asp1082Gly
ENST00000538635.5:n.421-29831A>G
NM_000552.3:c.3245A>G NP_000543.2:p.Asp1082Gly
NM_000552.4:c.3245A>G NP_000543.2:p.Asp1082Gly
NM_000552.5:c.3245A>G MANE Select NP_000543.3:p.Asp1082Gly
Search 100 bp 5'
Search 100 bp 3'