Canonical Allele Identifier: CA6402292
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs762190414
ExAC: 12:6125390 A / G
gnomAD v2: 12-6125390-A-G
gnomAD v4: 12-6016224-A-G
MyVariant Identifiers: chr12:g.6125390A>G (hg19) chr12:g.6016224A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6016224A>G , CM000674.2:g.6016224A>G GRCh38
NC_000012.11:g.6125390A>G , CM000674.1:g.6125390A>G GRCh37
NC_000012.10:g.5995651A>G NCBI36
NG_009072.1:g.113447T>C
NG_009072.2:g.113447T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5320T>C MANE Select ENSP00000261405.5:p.Leu1774=
ENST00000261405.9:c.5320T>C ENSP00000261405.5:p.Leu1774=
ENST00000538635.5:n.421-22290T>C
NM_000552.3:c.5320T>C NP_000543.2:p.Leu1774=
NM_000552.4:c.5320T>C NP_000543.2:p.Leu1774=
NM_000552.5:c.5320T>C MANE Select NP_000543.3:p.Leu1774=
Search 100 bp 5'
Search 100 bp 3'