Canonical Allele Identifier: CA977151090
Gene:

Linked Data

dbSNP Id: rs1961469926
gnomAD v3: 16-49108774-G-A
gnomAD v4: 16-49108774-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108774G>A , CM000678.2:g.49108774G>A GRCh38
NC_000016.9:g.49142685G>A , CM000678.1:g.49142685G>A GRCh37
NC_000016.8:g.47700186G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1170C>T
XR_001752138.2:n.591+5202C>T
XR_933517.2:n.810+1170C>T
Search 100 bp 5'
Search 100 bp 3'