Canonical Allele Identifier: CA1078753680
Gene:

Linked Data

dbSNP Id: rs1744563316
gnomAD v3: 5-92222729-G-A
gnomAD v4: 5-92222729-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.92222729G>A , CM000667.2:g.92222729G>A GRCh38
NC_000005.9:g.91518546G>A , CM000667.1:g.91518546G>A GRCh37
NC_000005.8:g.91554302G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948565.1:n.394+18045G>A
Search 100 bp 5'
Search 100 bp 3'