Canonical Allele Identifier: CA114162
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 310
ClinVar RCV Id: RCV001255177 RCV001843449 RCV002280857 RCV003313770 RCV003415599
dbSNP Id: rs1800386
ExAC: 12:6127833 T / C
gnomAD v2: 12-6127833-T-C
gnomAD v3: 12-6018667-T-C
gnomAD v4: 12-6018667-T-C
MyVariant Identifiers: chr12:g.6127833T>C (hg19) chr12:g.6018667T>C (hg38)
PubMed: PMID:2563148 PMID:3495304 PMID:11686102 PMID:12649144 PMID:14525793 PMID:15755288 PMID:15842375 PMID:16634745 PMID:16862529 PMID:16889557 PMID:16985174 PMID:17080221 PMID:17119126 PMID:17190853 PMID:18162126 PMID:18510569 PMID:19372260 PMID:19506354 PMID:20682599 PMID:21346256 PMID:22197721 PMID:23355534 PMID:23401897 PMID:23426949 PMID:24319188 PMID:25103891 PMID:25780857 PMID:26288715 PMID:27380589 PMID:27596108 PMID:28091443
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018667T>C , CM000674.2:g.6018667T>C GRCh38
NC_000012.11:g.6127833T>C , CM000674.1:g.6127833T>C GRCh37
NC_000012.10:g.5998094T>C NCBI36
NG_009072.1:g.111004A>G
NG_009072.2:g.111004A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.4751A>G MANE Select ENSP00000261405.5:p.Tyr1584Cys
ENST00000261405.9:c.4751A>G ENSP00000261405.5:p.Tyr1584Cys
ENST00000538635.5:n.421-24733A>G
NM_000552.3:c.4751A>G NP_000543.2:p.Tyr1584Cys
NM_000552.4:c.4751A>G NP_000543.2:p.Tyr1584Cys
NM_000552.5:c.4751A>G MANE Select NP_000543.3:p.Tyr1584Cys
Search 100 bp 5'
Search 100 bp 3'