Canonical Allele Identifier: CA14409528

Gene:

Linked Data

• dbSNP Id: rs1990193
• gnomAD v2: 17-68828089-C-A
• gnomAD v3: 17-70831948-C-A
• gnomAD v4: 17-70831948-C-A
• MyVariant Identifiers: chr17:g.68828089C>A (hg19) ; chr17:g.70831948C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70831948C>A , CM000679.2:g.70831948C>A	GRCh38
NC_000017.10:g.68828089C>A , CM000679.1:g.68828089C>A	GRCh37
NC_000017.9:g.66339684C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_934956.1:n.62+3266G>T
XR_934956.2:n.114+3266G>T