Canonical Allele Identifier: CA1797411909

Gene:

Linked Data

• dbSNP Id: rs1808001781
• gnomAD v4: 8-81478397-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.81478397A>C , CM000670.2:g.81478397A>C	GRCh38
NC_000008.10:g.82390632A>C , CM000670.1:g.82390632A>C	GRCh37
NC_000008.9:g.82553187A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745980.1:n.514+16423A>C