Canonical Allele Identifier: CA731215519

Gene:

Linked Data

• dbSNP Id: rs1237182743
• MyVariant Identifiers: chr1:g.213855647C>T (hg19) ; chr1:g.213682304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.213682304C>T , CM000663.2:g.213682304C>T	GRCh38
NC_000001.10:g.213855647C>T , CM000663.1:g.213855647C>T	GRCh37
NC_000001.9:g.211922270C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001738463.1:n.601-49113C>T
XR_001738464.1:n.426-49113C>T