Canonical Allele Identifier: CA16328947
Gene:

Linked Data

dbSNP Id: rs11787341
gnomAD v2: 8-19102564-G-A
gnomAD v3: 8-19245054-G-A
gnomAD v4: 8-19245054-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19245054G>A , CM000670.2:g.19245054G>A GRCh38
NC_000008.10:g.19102564G>A , CM000670.1:g.19102564G>A GRCh37
NC_000008.9:g.19146844G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_038919.1:n.375+94C>T