Canonical Allele Identifier: CA122895942

Gene:

Linked Data

• dbSNP Id: rs1021890285
• gnomAD v3: 5-92222716-T-C
• gnomAD v4: 5-92222716-T-C
• MyVariant Identifiers: chr5:g.91518533T>C (hg19) ; chr5:g.92222716T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.92222716T>C , CM000667.2:g.92222716T>C	GRCh38
NC_000005.9:g.91518533T>C , CM000667.1:g.91518533T>C	GRCh37
NC_000005.8:g.91554289T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948565.1:n.394+18032T>C