Canonical Allele Identifier: CA280996464
Gene:

Linked Data

dbSNP Id: rs546482639
gnomAD v3: 16-49108675-C-T
gnomAD v4: 16-49108675-C-T
MyVariant Identifiers: chr16:g.49142586C>T (hg19) chr16:g.49108675C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108675C>T , CM000678.2:g.49108675C>T GRCh38
NC_000016.9:g.49142586C>T , CM000678.1:g.49142586C>T GRCh37
NC_000016.8:g.47700087C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1269G>A
XR_001752138.2:n.591+5301G>A
XR_933517.2:n.810+1269G>A
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