Canonical Allele Identifier: CA1068370733

Gene:

Linked Data

• dbSNP Id: rs1728164936
• gnomAD v3: 4-134601452-A-C
• gnomAD v4: 4-134601452-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134601452A>C , CM000666.2:g.134601452A>C	GRCh38
NC_000004.11:g.135522607A>C , CM000666.1:g.135522607A>C	GRCh37
NC_000004.10:g.135742057A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939212.1:n.410+14093A>C
XR_939214.1:n.392+14093A>C
XR_939214.2:n.392+14093A>C