Canonical Allele Identifier: CA12637511
Gene:

Linked Data

dbSNP Id: rs10229603
gnomAD v2: 7-112628373-T-C
gnomAD v3: 7-112988318-T-C
gnomAD v4: 7-112988318-T-C
MyVariant Identifiers: chr7:g.112628373T>C (hg19) chr7:g.112988318T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.112988318T>C , CM000669.2:g.112988318T>C GRCh38
NC_000007.13:g.112628373T>C , CM000669.1:g.112628373T>C GRCh37
NC_000007.12:g.112415609T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_110162.1:n.77-1654A>G
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