Canonical Allele Identifier: CA6401975
Gene: VWF HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.5993928C>T
GRCh37 chr12:g.6103094C>T
Revel Score:
ENST00000261405 (MANE Select) 0.169
gnomAD v2:
12:6103094 C / T
gnomAD v3:
12:5993928 C / T
gnomAD v4:
chr12-5993928-C-T
Joint Max Group AF 0.00000443 (AFR)
Exomes Max Group AF 8.4e-7 (NFE)
dbSNP:
34230288
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.6532G>A MANE Select ENSP00000261405.5:p.Ala2178Thr
ENST00000261405.9:c.6532G>A ENSP00000261405.5:p.Ala2178Thr
ENST00000538635.5:n.427G>A
NM_000552.3:c.6532G>A NP_000543.2:p.Ala2178Thr
NM_000552.4:c.6532G>A NP_000543.2:p.Ala2178Thr
NM_000552.5:c.6532G>A MANE Select NP_000543.3:p.Ala2178Thr
Search 100 bp 5'
Search 100 bp 3'