Canonical Allele Identifier: CA1122483509
Gene:

Linked Data

dbSNP Id: rs1819674340
gnomAD v3: 9-25551233-G-A
gnomAD v4: 9-25551233-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551233G>A , CM000671.2:g.25551233G>A GRCh38
NC_000009.11:g.25551231G>A , CM000671.1:g.25551231G>A GRCh37
NC_000009.10:g.25541231G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929525.1:n.50-661C>T
XR_929525.2:n.674-661C>T
Search 100 bp 5'
Search 100 bp 3'