Canonical Allele Identifier: CA6401974
Gene: VWF HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.5993928C>A
GRCh37 chr12:g.6103094C>A
Revel Score:
ENST00000261405 (MANE Select) 0.122
gnomAD v2:
12:6103094 C / A
gnomAD v3:
12:5993928 C / A
gnomAD v4:
chr12-5993928-C-A
Joint Max Group AF 0.02295251 (NFE)
Genomes Max Group AF 0.02058136 (NFE)
Exomes Max Group AF 0.0230484 (NFE)
ClinVar RCV:
RCV000760135
ClinVar Variation:
619942
dbSNP:
34230288
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5993928C>A , CM000674.2:g.5993928C>A GRCh38
NC_000012.11:g.6103094C>A , CM000674.1:g.6103094C>A GRCh37
NC_000012.10:g.5973355C>A NCBI36
NG_009072.1:g.135743G>T
NG_009072.2:g.135743G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.6532G>T MANE Select ENSP00000261405.5:p.Ala2178Ser
ENST00000261405.9:c.6532G>T ENSP00000261405.5:p.Ala2178Ser
ENST00000538635.5:n.427G>T
NM_000552.3:c.6532G>T NP_000543.2:p.Ala2178Ser
NM_000552.4:c.6532G>T NP_000543.2:p.Ala2178Ser
NM_000552.5:c.6532G>T MANE Select NP_000543.3:p.Ala2178Ser
Search 100 bp 5'
Search 100 bp 3'