Canonical Allele Identifier: CA1118845286

Gene:

Linked Data

• dbSNP Id: rs561639477
• gnomAD v3: 8-125478569-T-C
• gnomAD v4: 8-125478569-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478569T>C , CM000670.2:g.125478569T>C	GRCh38
NC_000008.10:g.126490811T>C , CM000670.1:g.126490811T>C	GRCh37
NC_000008.9:g.126559993T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5255T>C