Canonical Allele Identifier: CA115417
Gene:

Linked Data

ClinVar Variation Id: 2211
ClinVar RCV Id: RCV000002295 RCV000377657 RCV000603173 RCV001787364 RCV001787366 RCV001787365 RCV003150805 RCV003227594 RCV003227595 RCV003227593 RCV003993732 RCV003996074 RCV003952337
dbSNP Id: rs9923231
gnomAD v2: 16-31107689-C-T
gnomAD v3: 16-31096368-C-T
gnomAD v4: 16-31096368-C-T
MyVariant Identifiers: chr16:g.31107689C>T (hg19) chr16:g.31096368C>T (hg38)
PubMed: PMID:15888487 PMID:18252229 PMID:20555338
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31096368C>T , CM000678.2:g.31096368C>T GRCh38
NC_000016.9:g.31107689C>T , CM000678.1:g.31107689C>T GRCh37
NC_000016.8:g.31015190C>T NCBI36
NG_011564.1:g.3588G>A
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