Canonical Allele Identifier: CA287548570

Gene:

Linked Data

• dbSNP Id: rs193131291
• gnomAD v2: 17-8040832-T-C
• gnomAD v3: 17-8137514-T-C
• gnomAD v4: 17-8137514-T-C
• MyVariant Identifiers: chr17:g.8040832T>C (hg19) ; chr17:g.8137514T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137514T>C , CM000679.2:g.8137514T>C	GRCh38
NC_000017.10:g.8040832T>C , CM000679.1:g.8040832T>C	GRCh37
NC_000017.9:g.7981557T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1335T>C
XR_934203.1:n.70-1963T>C
XR_934202.2:n.414-1335T>C