Canonical Allele Identifier: CA157048304
Gene:

Linked Data

dbSNP Id: rs1020271018
gnomAD v2: 7-41821893-G-C
gnomAD v3: 7-41782295-G-C
gnomAD v4: 7-41782295-G-C
MyVariant Identifiers: chr7:g.41821893G>C (hg19) chr7:g.41782295G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41782295G>C , CM000669.2:g.41782295G>C GRCh38
NC_000007.13:g.41821893G>C , CM000669.1:g.41821893G>C GRCh37
NC_000007.12:g.41788418G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745185.1:n.964+46581G>C
XR_001745186.1:n.954+46591G>C
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