Canonical Allele Identifier: CA974496476

Gene:

Linked Data

• dbSNP Id: rs1898214569
• gnomAD v3: 16-9249452-C-T
• gnomAD v4: 16-9249452-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9249452C>T , CM000678.2:g.9249452C>T	GRCh38
NC_000016.9:g.9343309C>T , CM000678.1:g.9343309C>T	GRCh37
NC_000016.8:g.9250810C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933054.1:n.70+64719C>T