Canonical Allele Identifier: CA1118643372

Gene:

Linked Data

• dbSNP Id: rs1814949022
• gnomAD v3: 8-122395963-C-T
• gnomAD v4: 8-122395963-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122395963C>T , CM000670.2:g.122395963C>T	GRCh38
NC_000008.10:g.123408202C>T , CM000670.1:g.123408202C>T	GRCh37
NC_000008.9:g.123477383C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3209G>A
XR_928599.3:n.152+3209G>A