Canonical Allele Identifier: CA289219255

Gene:

Linked Data

• dbSNP Id: rs150323516
• gnomAD v2: 17-27703264-C-T
• gnomAD v3: 17-29376246-C-T
• gnomAD v4: 17-29376246-C-T
• MyVariant Identifiers: chr17:g.27703264C>T (hg19) ; chr17:g.29376246C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29376246C>T , CM000679.2:g.29376246C>T	GRCh38
NC_000017.10:g.27703264C>T , CM000679.1:g.27703264C>T	GRCh37
NC_000017.9:g.24727390C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011525588.1:c.1008-5941G>A	XP_011523890.1:n.1008-5941G>A