Canonical Allele Identifier: CA2601096050

Gene:

Linked Data

• dbSNP Id: rs2129789302
• gnomAD v3: 8-81478412-C-T
• gnomAD v4: 8-81478412-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.81478412C>T , CM000670.2:g.81478412C>T	GRCh38
NC_000008.10:g.82390647C>T , CM000670.1:g.82390647C>T	GRCh37
NC_000008.9:g.82553202C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745980.1:n.514+16438C>T