Canonical Allele Identifier: CA1081186990
Gene:

Linked Data

dbSNP Id: rs1749025095
gnomAD v3: 5-126002800-G-A
gnomAD v4: 5-126002800-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002800G>A , CM000667.2:g.126002800G>A GRCh38
NC_000005.9:g.125338493G>A , CM000667.1:g.125338493G>A GRCh37
NC_000005.8:g.125366392G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948737.1:n.565+3540C>T
XR_948738.1:n.497+5740C>T
Search 100 bp 5'
Search 100 bp 3'