Canonical Allele Identifier: CA383498252
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 627250
ClinVar RCV Id: RCV000852041 RCV002264736
dbSNP Id: rs1591890769
gnomAD v3: 12-6057971-A-G
gnomAD v4: 12-6057971-A-G
MyVariant Identifiers: chr12:g.6167137A>G (hg19) chr12:g.6057971A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6057971A>G , CM000674.2:g.6057971A>G GRCh38
NC_000012.11:g.6167137A>G , CM000674.1:g.6167137A>G GRCh37
NC_000012.10:g.6037398A>G NCBI36
NG_009072.1:g.71700T>C
NG_009072.2:g.71700T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1607T>C MANE Select ENSP00000261405.5:p.Leu536Pro
ENST00000261405.9:c.1607T>C ENSP00000261405.5:p.Leu536Pro
ENST00000538635.5:n.420+52544T>C
NM_000552.3:c.1607T>C NP_000543.2:p.Leu536Pro
NM_000552.4:c.1607T>C NP_000543.2:p.Leu536Pro
NM_000552.5:c.1607T>C MANE Select NP_000543.3:p.Leu536Pro
Search 100 bp 5'
Search 100 bp 3'