Canonical Allele Identifier: CA6402651
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs767135898
ExAC: 12:6128673 A / G
gnomAD v2: 12-6128673-A-G
gnomAD v4: 12-6019507-A-G
MyVariant Identifiers: chr12:g.6128673A>G (hg19) chr12:g.6019507A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019507A>G , CM000674.2:g.6019507A>G GRCh38
NC_000012.11:g.6128673A>G , CM000674.1:g.6128673A>G GRCh37
NC_000012.10:g.5998934A>G NCBI36
NG_009072.1:g.110164T>C
NG_009072.2:g.110164T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3911T>C MANE Select ENSP00000261405.5:p.Met1304Thr
ENST00000261405.9:c.3911T>C ENSP00000261405.5:p.Met1304Thr
ENST00000538635.5:n.421-25573T>C
NM_000552.3:c.3911T>C NP_000543.2:p.Met1304Thr
NM_000552.4:c.3911T>C NP_000543.2:p.Met1304Thr
NM_000552.5:c.3911T>C MANE Select NP_000543.3:p.Met1304Thr
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