Canonical Allele Identifier: CA626487390

Gene:

Linked Data

• dbSNP Id: rs1200486924
• gnomAD v2: 17-48289257-C-T
• gnomAD v3: 17-50211896-C-T
• gnomAD v4: 17-50211896-C-T
• MyVariant Identifiers: chr17:g.48289257C>T (hg19) ; chr17:g.50211896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211896C>T , CM000679.2:g.50211896C>T	GRCh38
NC_000017.10:g.48289257C>T , CM000679.1:g.48289257C>T	GRCh37
NC_000017.9:g.45644256C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.43-1939C>T