Canonical Allele Identifier: CA292844039

Gene:

Linked Data

• dbSNP Id: rs1040762826
• gnomAD v2: 17-68828129-G-A
• gnomAD v3: 17-70831988-G-A
• gnomAD v4: 17-70831988-G-A
• MyVariant Identifiers: chr17:g.68828129G>A (hg19) ; chr17:g.70831988G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70831988G>A , CM000679.2:g.70831988G>A	GRCh38
NC_000017.10:g.68828129G>A , CM000679.1:g.68828129G>A	GRCh37
NC_000017.9:g.66339724G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934956.1:n.62+3226C>T
XR_934956.2:n.114+3226C>T