Canonical Allele Identifier: CA1115843700

Gene:

Linked Data

• dbSNP Id: rs1808001613
• gnomAD v3: 8-81478383-T-C
• gnomAD v4: 8-81478383-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.81478383T>C , CM000670.2:g.81478383T>C	GRCh38
NC_000008.10:g.82390618T>C , CM000670.1:g.82390618T>C	GRCh37
NC_000008.9:g.82553173T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745980.1:n.514+16409T>C