Canonical Allele Identifier: CA383498458
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1477870096
gnomAD v2: 12-6127552-G-A
gnomAD v3: 12-6018386-G-A
gnomAD v4: 12-6018386-G-A
MyVariant Identifiers: chr12:g.6127552G>A (hg19) chr12:g.6018386G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018386G>A , CM000674.2:g.6018386G>A GRCh38
NC_000012.11:g.6127552G>A , CM000674.1:g.6127552G>A GRCh37
NC_000012.10:g.5997813G>A NCBI36
NG_009072.1:g.111285C>T
NG_009072.2:g.111285C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5032C>T MANE Select ENSP00000261405.5:p.Pro1678Ser
ENST00000261405.9:c.5032C>T ENSP00000261405.5:p.Pro1678Ser
ENST00000538635.5:n.421-24452C>T
NM_000552.3:c.5032C>T NP_000543.2:p.Pro1678Ser
NM_000552.4:c.5032C>T NP_000543.2:p.Pro1678Ser
NM_000552.5:c.5032C>T MANE Select NP_000543.3:p.Pro1678Ser
Search 100 bp 5'
Search 100 bp 3'