Canonical Allele Identifier: CA560157713

Gene:

Linked Data

• dbSNP Id: rs1012688784
• gnomAD v2: 5-65783725-G-A
• gnomAD v3: 5-66487897-G-A
• gnomAD v4: 5-66487897-G-A
• MyVariant Identifiers: chr5:g.65783725G>A (hg19) ; chr5:g.66487897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.66487897G>A , CM000667.2:g.66487897G>A	GRCh38
NC_000005.9:g.65783725G>A , CM000667.1:g.65783725G>A	GRCh37
NC_000005.8:g.65819481G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948381.1:n.649-48939G>A