Canonical Allele Identifier: CA988943663

Gene:

Linked Data

• dbSNP Id: rs2031431812
• gnomAD v3: 18-31756569-T-C
• gnomAD v4: 18-31756569-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31756569T>C , CM000680.2:g.31756569T>C	GRCh38
NC_000018.9:g.29336532T>C , CM000680.1:g.29336532T>C	GRCh37
NC_000018.8:g.27590530T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935338.1:n.66-5570T>C