Canonical Allele Identifier: CA730997272

Gene:

Linked Data

• dbSNP Id: rs1217061574
• MyVariant Identifiers: chr1:g.211553062C>T (hg19) ; chr1:g.211379720C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211379720C>T , CM000663.2:g.211379720C>T	GRCh38
NC_000001.10:g.211553062C>T , CM000663.1:g.211553062C>T	GRCh37
NC_000001.9:g.209619685C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001738446.1:n.291+2475G>A