Canonical Allele Identifier: CA6402963
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs766346430
ExAC: 12:6140706 T / C
gnomAD v2: 12-6140706-T-C
gnomAD v4: 12-6031540-T-C
MyVariant Identifiers: chr12:g.6140706T>C (hg19) chr12:g.6031540T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031540T>C , CM000674.2:g.6031540T>C GRCh38
NC_000012.11:g.6140706T>C , CM000674.1:g.6140706T>C GRCh37
NC_000012.10:g.6010967T>C NCBI36
NG_009072.1:g.98131A>G
NG_009072.2:g.98131A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2724A>G MANE Select ENSP00000261405.5:p.Leu908=
ENST00000261405.9:c.2724A>G ENSP00000261405.5:p.Leu908=
ENST00000538635.5:n.421-37606A>G
NM_000552.3:c.2724A>G NP_000543.2:p.Leu908=
NM_000552.4:c.2724A>G NP_000543.2:p.Leu908=
NM_000552.5:c.2724A>G MANE Select NP_000543.3:p.Leu908=
Search 100 bp 5'
Search 100 bp 3'