Canonical Allele Identifier: CA1104155229

Gene:

Linked Data

• dbSNP Id: rs1840054096
• gnomAD v3: 7-87913731-T-C
• gnomAD v4: 7-87913731-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87913731T>C , CM000669.2:g.87913731T>C	GRCh38
NC_000007.13:g.87543046T>C , CM000669.1:g.87543046T>C	GRCh37
NC_000007.12:g.87380982T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927723.1:n.148+170A>G
XR_927724.1:n.192+170A>G