Canonical Allele Identifier: CA12755378
Gene:

Linked Data

dbSNP Id: rs17128007
gnomAD v2: 8-19083152-C-T
gnomAD v3: 8-19225642-C-T
gnomAD v4: 8-19225642-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19225642C>T , CM000670.2:g.19225642C>T GRCh38
NC_000008.10:g.19083152C>T , CM000670.1:g.19083152C>T GRCh37
NC_000008.9:g.19127432C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_038919.1:n.568+1526G>A