Canonical Allele Identifier: CA1247519098
Gene:

Linked Data

dbSNP Id: rs1572549182
gnomAD v3: 2-41534629-G-A
gnomAD v4: 2-41534629-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534629G>A , CM000664.2:g.41534629G>A GRCh38
NC_000002.11:g.41761769G>A , CM000664.1:g.41761769G>A GRCh37
NC_000002.10:g.41615273G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939996.1:n.181+3097C>T
XR_939997.1:n.146+3097C>T
XR_939997.2:n.9529+3097C>T
Search 100 bp 5'
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