Canonical Allele Identifier: CA2588401996
Gene:

Linked Data

dbSNP Id: rs2131009352
gnomAD v3: 10-8697695-C-T
gnomAD v4: 10-8697695-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8697695C>T , CM000672.2:g.8697695C>T GRCh38
NC_000010.10:g.8739658C>T , CM000672.1:g.8739658C>T GRCh37
NC_000010.9:g.8779664C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930641.1:n.33-27894G>A