Canonical Allele Identifier: CA6402956
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs758811865
ExAC: 12:6140657 C / T
gnomAD v2: 12-6140657-C-T
MyVariant Identifiers: chr12:g.6140657C>T (hg19) chr12:g.6031491C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031491C>T , CM000674.2:g.6031491C>T GRCh38
NC_000012.11:g.6140657C>T , CM000674.1:g.6140657C>T GRCh37
NC_000012.10:g.6010918C>T NCBI36
NG_009072.1:g.98180G>A
NG_009072.2:g.98180G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2773G>A MANE Select ENSP00000261405.5:p.Val925Ile
ENST00000261405.9:c.2773G>A ENSP00000261405.5:p.Val925Ile
ENST00000538635.5:n.421-37557G>A
NM_000552.3:c.2773G>A NP_000543.2:p.Val925Ile
NM_000552.4:c.2773G>A NP_000543.2:p.Val925Ile
NM_000552.5:c.2773G>A MANE Select NP_000543.3:p.Val925Ile
Search 100 bp 5'
Search 100 bp 3'