Canonical Allele Identifier: CA1118845393

Gene:

Linked Data

• dbSNP Id: rs1812791627
• gnomAD v3: 8-125478865-A-T
• gnomAD v4: 8-125478865-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478865A>T , CM000670.2:g.125478865A>T	GRCh38
NC_000008.10:g.126491107A>T , CM000670.1:g.126491107A>T	GRCh37
NC_000008.9:g.126560289A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5551A>T