Canonical Allele Identifier: CA228708
Gene: VWF HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.6016549C>T
GRCh37 chr12:g.6125715C>T
Revel Score:
ENST00000261405 (MANE Select) 0.074
gnomAD v2:
12:6125715 C / T
gnomAD v3:
12:6016549 C / T
gnomAD v4:
chr12-6016549-C-T
Joint Max Group AF 0.00125074 (NFE)
Genomes Max Group AF 0.00150721 (NFE)
Exomes Max Group AF 0.00122126 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6016549C>T , CM000674.2:g.6016549C>T GRCh38
NC_000012.11:g.6125715C>T , CM000674.1:g.6125715C>T GRCh37
NC_000012.10:g.5995976C>T NCBI36
NG_009072.1:g.113122G>A
NG_009072.2:g.113122G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5278G>A MANE Select ENSP00000261405.5:p.Val1760Ile
ENST00000261405.9:c.5278G>A ENSP00000261405.5:p.Val1760Ile
ENST00000538635.5:n.421-22615G>A
NM_000552.3:c.5278G>A NP_000543.2:p.Val1760Ile
NM_000552.4:c.5278G>A NP_000543.2:p.Val1760Ile
NM_000552.5:c.5278G>A MANE Select NP_000543.3:p.Val1760Ile
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