Canonical Allele Identifier: CA974496523

Gene:

Linked Data

• dbSNP Id: rs1898216005
• gnomAD v3: 16-9249571-G-C
• gnomAD v4: 16-9249571-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9249571G>C , CM000678.2:g.9249571G>C	GRCh38
NC_000016.9:g.9343428G>C , CM000678.1:g.9343428G>C	GRCh37
NC_000016.8:g.9250929G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933054.1:n.70+64838G>C