Canonical Allele Identifier: CA730997257

Gene:

Linked Data

• dbSNP Id: rs1378237099
• MyVariant Identifiers: chr1:g.211553020T>C (hg19) ; chr1:g.211379678T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211379678T>C , CM000663.2:g.211379678T>C	GRCh38
NC_000001.10:g.211553020T>C , CM000663.1:g.211553020T>C	GRCh37
NC_000001.9:g.209619643T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001738446.1:n.291+2517A>G