Canonical Allele Identifier: CA950002296

Gene:

Linked Data

• dbSNP Id: rs1874807254
• gnomAD v3: 12-84952196-T-C
• gnomAD v4: 12-84952196-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.84952196T>C , CM000674.2:g.84952196T>C	GRCh38
NC_000012.11:g.85345975T>C , CM000674.1:g.85345975T>C	GRCh37
NC_000012.10:g.83870106T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945152.1:n.316+30882T>C
XR_945153.1:n.301+13732T>C
XR_945154.1:n.175-36746T>C
XR_945155.1:n.330+30882T>C
XR_945152.2:n.316+30882T>C
XR_945154.2:n.175-36746T>C
XR_945155.2:n.888+30882T>C