Canonical Allele Identifier: CA146023671

Gene:

Linked Data

• dbSNP Id: rs927933159
• MyVariant Identifiers: chr6:g.117771300T>C (hg19) ; chr6:g.117450137T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450137T>C , CM000668.2:g.117450137T>C	GRCh38
NC_000006.11:g.117771300T>C , CM000668.1:g.117771300T>C	GRCh37
NC_000006.10:g.117877993T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000467125.1:c.547+116717A>G	ENSP00000487717.1:n.547+116717A>G