Canonical Allele Identifier: CA287548480

Gene:

Linked Data

• dbSNP Id: rs189453356
• gnomAD v2: 17-8040649-C-T
• gnomAD v3: 17-8137331-C-T
• gnomAD v4: 17-8137331-C-T
• MyVariant Identifiers: chr17:g.8040649C>T (hg19) ; chr17:g.8137331C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137331C>T , CM000679.2:g.8137331C>T	GRCh38
NC_000017.10:g.8040649C>T , CM000679.1:g.8040649C>T	GRCh37
NC_000017.9:g.7981374C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1518C>T
XR_934203.1:n.70-2146C>T
XR_934202.2:n.414-1518C>T