Canonical Allele Identifier: CA168906927
Gene:

Linked Data

dbSNP Id: rs1042226724
gnomAD v2: 7-148258026-C-G
gnomAD v3: 7-148560934-C-G
gnomAD v4: 7-148560934-C-G
MyVariant Identifiers: chr7:g.148258026C>G (hg19) chr7:g.148560934C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148560934C>G , CM000669.2:g.148560934C>G GRCh38
NC_000007.13:g.148258026C>G , CM000669.1:g.148258026C>G GRCh37
NC_000007.12:g.147888959C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928099.1:n.300+7166G>C
XR_928100.1:n.433+7166G>C
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