Canonical Allele Identifier: CA622439633
Gene:

Linked Data

dbSNP Id: rs1293375972
gnomAD v2: 16-49142675-C-G
gnomAD v3: 16-49108764-C-G
gnomAD v4: 16-49108764-C-G
MyVariant Identifiers: chr16:g.49142675C>G (hg19) chr16:g.49108764C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108764C>G , CM000678.2:g.49108764C>G GRCh38
NC_000016.9:g.49142675C>G , CM000678.1:g.49142675C>G GRCh37
NC_000016.8:g.47700176C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1180G>C
XR_001752138.2:n.591+5212G>C
XR_933517.2:n.810+1180G>C
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