Canonical Allele Identifier: CA1035827865

Gene:

Linked Data

• dbSNP Id: rs1680372747
• gnomAD v3: 2-122883970-C-T
• gnomAD v4: 2-122883970-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122883970C>T , CM000664.2:g.122883970C>T	GRCh38
NC_000002.11:g.123641546C>T , CM000664.1:g.123641546C>T	GRCh37
NC_000002.10:g.123358016C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923292.1:n.1125-972C>T
XR_001739692.1:n.1451-972C>T
XR_923292.2:n.1358-972C>T