Canonical Allele Identifier: CA185690301

Gene:

Linked Data

• dbSNP Id: rs1053162114
• gnomAD v2: 8-128024826-G-A
• MyVariant Identifiers: chr8:g.128024826G>A (hg19) ; chr8:g.127012581G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127012581G>A , CM000670.2:g.127012581G>A	GRCh38
NC_000008.10:g.128024826G>A , CM000670.1:g.128024826G>A	GRCh37
NC_000008.9:g.128094008G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001746076.2:n.1364+5963G>A