Canonical Allele Identifier: CA1078753795

Gene:

Linked Data

• dbSNP Id: rs1744566991
• gnomAD v3: 5-92222963-C-G
• gnomAD v4: 5-92222963-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.92222963C>G , CM000667.2:g.92222963C>G	GRCh38
NC_000005.9:g.91518780C>G , CM000667.1:g.91518780C>G	GRCh37
NC_000005.8:g.91554536C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948565.1:n.394+18279C>G