Canonical Allele Identifier: CA6402279
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs765163531
ExAC: 12:6125297 C / T
gnomAD v2: 12-6125297-C-T
gnomAD v4: 12-6016131-C-T
MyVariant Identifiers: chr12:g.6125297C>T (hg19) chr12:g.6016131C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6016131C>T , CM000674.2:g.6016131C>T GRCh38
NC_000012.11:g.6125297C>T , CM000674.1:g.6125297C>T GRCh37
NC_000012.10:g.5995558C>T NCBI36
NG_009072.1:g.113540G>A
NG_009072.2:g.113540G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5413G>A MANE Select ENSP00000261405.5:p.Val1805Met
ENST00000261405.9:c.5413G>A ENSP00000261405.5:p.Val1805Met
ENST00000538635.5:n.421-22197G>A
NM_000552.3:c.5413G>A NP_000543.2:p.Val1805Met
NM_000552.4:c.5413G>A NP_000543.2:p.Val1805Met
NM_000552.5:c.5413G>A MANE Select NP_000543.3:p.Val1805Met
Search 100 bp 5'
Search 100 bp 3'