Canonical Allele Identifier: CA15869084
Gene:

Linked Data

dbSNP Id: rs4782151
gnomAD v2: 16-9325985-C-T
gnomAD v3: 16-9232128-C-T
gnomAD v4: 16-9232128-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9232128C>T , CM000678.2:g.9232128C>T GRCh38
NC_000016.9:g.9325985C>T , CM000678.1:g.9325985C>T GRCh37
NC_000016.8:g.9233486C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+47395C>T