Canonical Allele Identifier: CA1029769755
Gene:

Linked Data

dbSNP Id: rs1667988516
gnomAD v3: 2-41534420-C-T
gnomAD v4: 2-41534420-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534420C>T , CM000664.2:g.41534420C>T GRCh38
NC_000002.11:g.41761560C>T , CM000664.1:g.41761560C>T GRCh37
NC_000002.10:g.41615064C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939996.1:n.181+3306G>A
XR_939997.1:n.146+3306G>A
XR_939997.2:n.9529+3306G>A
Search 100 bp 5'
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