Canonical Allele Identifier: CA578882622
Gene:

Linked Data

dbSNP Id: rs1343065904
gnomAD v2: 7-148258116-T-C
gnomAD v3: 7-148561024-T-C
gnomAD v4: 7-148561024-T-C
MyVariant Identifiers: chr7:g.148258116T>C (hg19) chr7:g.148561024T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148561024T>C , CM000669.2:g.148561024T>C GRCh38
NC_000007.13:g.148258116T>C , CM000669.1:g.148258116T>C GRCh37
NC_000007.12:g.147889049T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928099.1:n.300+7076A>G
XR_928100.1:n.433+7076A>G
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