Canonical Allele Identifier: CA202788798
Gene:

Linked Data

dbSNP Id: rs778120085
gnomAD v2: 10-8739647-C-T
gnomAD v3: 10-8697684-C-T
gnomAD v4: 10-8697684-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8697684C>T , CM000672.2:g.8697684C>T GRCh38
NC_000010.10:g.8739647C>T , CM000672.1:g.8739647C>T GRCh37
NC_000010.9:g.8779653C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930641.1:n.33-27883G>A