Canonical Allele Identifier: CA560796660

Gene:

Linked Data

• dbSNP Id: rs1481724210
• gnomAD v2: 5-91518669-C-T
• MyVariant Identifiers: chr5:g.91518669C>T (hg19) ; chr5:g.92222852C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.92222852C>T , CM000667.2:g.92222852C>T	GRCh38
NC_000005.9:g.91518669C>T , CM000667.1:g.91518669C>T	GRCh37
NC_000005.8:g.91554425C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948565.1:n.394+18168C>T