Canonical Allele Identifier: CA146023697

Gene:

Linked Data

• dbSNP Id: rs1033393791
• MyVariant Identifiers: chr6:g.117771345T>G (hg19) ; chr6:g.117450182T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450182T>G , CM000668.2:g.117450182T>G	GRCh38
NC_000006.11:g.117771345T>G , CM000668.1:g.117771345T>G	GRCh37
NC_000006.10:g.117878038T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000467125.1:c.547+116672A>C	ENSP00000487717.1:n.547+116672A>C