Canonical Allele Identifier: CA280996494
Gene:

Linked Data

dbSNP Id: rs748832197
gnomAD v3: 16-49108818-C-G
gnomAD v4: 16-49108818-C-G
MyVariant Identifiers: chr16:g.49142729C>G (hg19) chr16:g.49108818C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108818C>G , CM000678.2:g.49108818C>G GRCh38
NC_000016.9:g.49142729C>G , CM000678.1:g.49142729C>G GRCh37
NC_000016.8:g.47700230C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1126G>C
XR_001752138.2:n.591+5158G>C
XR_933517.2:n.810+1126G>C
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