Canonical Allele Identifier: CA847118722

Gene:

Linked Data

• dbSNP Id: rs1377532135
• MyVariant Identifiers: chr8:g.128024724G>C (hg19) ; chr8:g.127012479G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127012479G>C , CM000670.2:g.127012479G>C	GRCh38
NC_000008.10:g.128024724G>C , CM000670.1:g.128024724G>C	GRCh37
NC_000008.9:g.128093906G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1364+5861G>C