Canonical Allele Identifier: CA228748
Gene: VWF HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.5993906C>T
GRCh37 chr12:g.6103072C>T
Revel Score:
ENST00000261405 (MANE Select) 0.372
gnomAD v2:
12:6103072 C / T
gnomAD v3:
12:5993906 C / T
gnomAD v4:
chr12-5993906-C-T
Joint Max Group AF 0.1900418 (AFR)
Genomes Max Group AF 0.18839458 (AFR)
Exomes Max Group AF 0.18966229 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5993906C>T , CM000674.2:g.5993906C>T GRCh38
NC_000012.11:g.6103072C>T , CM000674.1:g.6103072C>T GRCh37
NC_000012.10:g.5973333C>T NCBI36
NG_009072.1:g.135765G>A
NG_009072.2:g.135765G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.6554G>A MANE Select ENSP00000261405.5:p.Arg2185Gln
ENST00000261405.9:c.6554G>A ENSP00000261405.5:p.Arg2185Gln
ENST00000538635.5:n.449G>A
NM_000552.3:c.6554G>A NP_000543.2:p.Arg2185Gln
NM_000552.4:c.6554G>A NP_000543.2:p.Arg2185Gln
NM_000552.5:c.6554G>A MANE Select NP_000543.3:p.Arg2185Gln
Search 100 bp 5'
Search 100 bp 3'