Canonical Allele Identifier: CA1078753691

Gene:

Linked Data

• dbSNP Id: rs1744563912
• gnomAD v3: 5-92222758-C-T
• gnomAD v4: 5-92222758-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.92222758C>T , CM000667.2:g.92222758C>T	GRCh38
NC_000005.9:g.91518575C>T , CM000667.1:g.91518575C>T	GRCh37
NC_000005.8:g.91554331C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948565.1:n.394+18074C>T