Canonical Allele Identifier: CA725620385

Gene:

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88787321C>G , CM000678.2:g.88787321C>G	GRCh38
NC_000016.9:g.88853729C>G , CM000678.1:g.88853729C>G	GRCh37
NC_000016.8:g.87381230C>G	NCBI36
NG_042229.1:g.2900G>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001752302.1:n.117+1450C>G
XR_001752303.1:n.117+1450C>G