Canonical Allele Identifier: CA228615
Gene: VWF HGNC NCBI
COSMIC:
COSM3746318 (not active)
MyVariant.info:
GRCh38 chr12:g.6018901G>A
GRCh37 chr12:g.6128067G>A
Revel Score:
ENST00000261405 (MANE Select) 0.796
gnomAD v2:
12:6128067 G / A
gnomAD v3:
12:6018901 G / A
gnomAD v4:
chr12-6018901-G-A
Joint Max Group AF 0.00009342 (AMR)
Exomes Max Group AF 0.00012773 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018901G>A , CM000674.2:g.6018901G>A GRCh38
NC_000012.11:g.6128067G>A , CM000674.1:g.6128067G>A GRCh37
NC_000012.10:g.5998328G>A NCBI36
NG_009072.1:g.110770C>T
NG_009072.2:g.110770C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4517C>T MANE Select ENSP00000261405.5:p.Ser1506Leu
ENST00000261405.9:c.4517C>T ENSP00000261405.5:p.Ser1506Leu
ENST00000538635.5:n.421-24967C>T
NM_000552.3:c.4517C>T NP_000543.2:p.Ser1506Leu
NM_000552.4:c.4517C>T NP_000543.2:p.Ser1506Leu
NM_000552.5:c.4517C>T MANE Select NP_000543.3:p.Ser1506Leu
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