Canonical Allele Identifier: CA625447446

Gene:

Linked Data

• dbSNP Id: rs1252997203
• gnomAD v2: 17-28564297-G-A
• gnomAD v3: 17-30237279-G-A
• gnomAD v4: 17-30237279-G-A
• MyVariant Identifiers: chr17:g.28564297G>A (hg19) ; chr17:g.30237279G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237279G>A , CM000679.2:g.30237279G>A	GRCh38
NC_000017.10:g.28564297G>A , CM000679.1:g.28564297G>A	GRCh37
NC_000017.9:g.25588423G>A	NCBI36
NG_011747.2:g.3658C>T

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+209G>A
XR_001752824.1:n.280+209G>A