Canonical Allele Identifier: CA721212616
Gene:

Linked Data

dbSNP Id: rs1423010266
gnomAD v3: 16-49108734-A-C
gnomAD v4: 16-49108734-A-C
MyVariant Identifiers: chr16:g.49142645A>C (hg19) chr16:g.49108734A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108734A>C , CM000678.2:g.49108734A>C GRCh38
NC_000016.9:g.49142645A>C , CM000678.1:g.49142645A>C GRCh37
NC_000016.8:g.47700146A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1210T>G
XR_001752138.2:n.591+5242T>G
XR_933517.2:n.810+1210T>G
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