Canonical Allele Identifier: CA280996461
Gene:

Linked Data

dbSNP Id: rs185796632
gnomAD v2: 16-49142549-G-A
gnomAD v3: 16-49108638-G-A
gnomAD v4: 16-49108638-G-A
MyVariant Identifiers: chr16:g.49142549G>A (hg19) chr16:g.49108638G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108638G>A , CM000678.2:g.49108638G>A GRCh38
NC_000016.9:g.49142549G>A , CM000678.1:g.49142549G>A GRCh37
NC_000016.8:g.47700050G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1306C>T
XR_001752138.2:n.591+5338C>T
XR_933517.2:n.810+1306C>T
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