Canonical Allele Identifier: CA122895854

Gene:

Linked Data

• dbSNP Id: rs568291158
• gnomAD v3: 5-92222667-T-C
• gnomAD v4: 5-92222667-T-C
• MyVariant Identifiers: chr5:g.91518484T>C (hg19) ; chr5:g.92222667T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.92222667T>C , CM000667.2:g.92222667T>C	GRCh38
NC_000005.9:g.91518484T>C , CM000667.1:g.91518484T>C	GRCh37
NC_000005.8:g.91554240T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948565.1:n.394+17983T>C