ClinGen Allele Registry
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Canonical Allele Identifier:
CA174614
Gene: WWC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161696
ClinVar RCV Id:
RCV000149232
dbSNP Id:
rs193921110
COSMIC:
COSM1179532
COSM5521469
MyVariant Identifiers:
chrX:g.10094329C>A (hg19)
chrX:g.10126289C>A (hg38)
PubMed:
PMID:23265383
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.10126289C>A , CM000685.2:g.10126289C>A
GRCh38
NC_000023.10:g.10094329C>A , CM000685.1:g.10094329C>A
GRCh37
NC_000023.9:g.10054329C>A
NCBI36
NG_021467.1:g.115535C>A
NG_021467.2:g.115535C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000380861.10:c.2461C>A
ENSP00000370242.6:p.Leu821Met
ENST00000380861.9:c.2089C>A
ENSP00000370242.5:p.Leu697Met
ENST00000380861.8:c.2089C>A
ENSP00000370242.4:p.Leu697Met
ENST00000454666.2:c.2461C>A
ENSP00000399584.2:p.Leu821Met
NM_015691.3:c.2089C>A
NP_056506.2:p.Leu697Met
NM_015691.4:c.2089C>A
NP_056506.2:p.Leu697Met
NM_015691.5:c.2464C>A
NP_056506.3:p.Leu822Met
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