Canonical Allele Identifier: CA1980416150

Gene:

Linked Data

• dbSNP Id: rs308309

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67947557C>G , CM000673.2:g.67947557C>G	GRCh38
NC_000011.9:g.67715028C>G , CM000673.1:g.67715028C>G	GRCh37
NC_000011.8:g.67471604C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000527543.2:n.322-7783G>C
XM_024448784.1:c.466-7783G>C	XP_024304552.1:n.466-7783G>C
XR_002957254.1:n.1090-7783G>C
XR_002957255.1:n.1085+7925G>C
XR_002957256.1:n.1093-7783G>C