Canonical Allele Identifier: CA1078753778

Gene:

Linked Data

• dbSNP Id: rs1744566459
• gnomAD v3: 5-92222918-G-C
• gnomAD v4: 5-92222918-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.92222918G>C , CM000667.2:g.92222918G>C	GRCh38
NC_000005.9:g.91518735G>C , CM000667.1:g.91518735G>C	GRCh37
NC_000005.8:g.91554491G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948565.1:n.394+18234G>C