Canonical Allele Identifier: CA732115242

Gene:

Linked Data

• dbSNP Id: rs1291657516
• MyVariant Identifiers: chr1:g.224256306G>A (hg19) ; chr1:g.224068604G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.224068604G>A , CM000663.2:g.224068604G>A	GRCh38
NC_000001.10:g.224256306G>A , CM000663.1:g.224256306G>A	GRCh37
NC_000001.9:g.222322929G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949173.1:n.385+950G>A
XR_001737824.1:n.242+950G>A