Canonical Allele Identifier: CA383498405
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1565847540
gnomAD v4: 12-6058041-A-C
MyVariant Identifiers: chr12:g.6167207A>C (hg19) chr12:g.6058041A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058041A>C , CM000674.2:g.6058041A>C GRCh38
NC_000012.11:g.6167207A>C , CM000674.1:g.6167207A>C GRCh37
NC_000012.10:g.6037468A>C NCBI36
NG_009072.1:g.71630T>G
NG_009072.2:g.71630T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1537T>G MANE Select ENSP00000261405.5:p.Ser513Ala
ENST00000261405.9:c.1537T>G ENSP00000261405.5:p.Ser513Ala
ENST00000538635.5:n.420+52474T>G
NM_000552.3:c.1537T>G NP_000543.2:p.Ser513Ala
NM_000552.4:c.1537T>G NP_000543.2:p.Ser513Ala
NM_000552.5:c.1537T>G MANE Select NP_000543.3:p.Ser513Ala
Search 100 bp 5'
Search 100 bp 3'