Canonical Allele Identifier: CA1117690951

Gene:

Linked Data

• dbSNP Id: rs1816864620
• gnomAD v3: 8-107777618-T-C
• gnomAD v4: 8-107777618-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.107777618T>C , CM000670.2:g.107777618T>C	GRCh38
NC_000008.10:g.108789846T>C , CM000670.1:g.108789846T>C	GRCh37
NC_000008.9:g.108859022T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_928527.1:n.185+858A>G
XR_928527.2:n.219+858A>G