Canonical Allele Identifier: CA834982461

Gene:

Linked Data

• dbSNP Id: rs1230532935
• MyVariant Identifiers: chr7:g.148258012C>A (hg19) ; chr7:g.148560920C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148560920C>A , CM000669.2:g.148560920C>A	GRCh38
NC_000007.13:g.148258012C>A , CM000669.1:g.148258012C>A	GRCh37
NC_000007.12:g.147888945C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_928099.1:n.300+7180G>T
XR_928100.1:n.433+7180G>T