Canonical Allele Identifier: CA12538083
Gene:

Linked Data

dbSNP Id: rs1722146
gnomAD v2: 7-46072544-A-G
gnomAD v3: 7-46032946-A-G
gnomAD v4: 7-46032946-A-G
MyVariant Identifiers: chr7:g.46072544A>G (hg19) chr7:g.46032946A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.46032946A>G , CM000669.2:g.46032946A>G GRCh38
NC_000007.13:g.46072544A>G , CM000669.1:g.46072544A>G GRCh37
NC_000007.12:g.46039069A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745203.1:n.1270-3672A>G
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