Canonical Allele Identifier: CA942571896
Gene:

Linked Data

dbSNP Id: rs1861335031
gnomAD v3: 11-116442647-G-A
gnomAD v4: 11-116442647-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116442647G>A , CM000673.2:g.116442647G>A GRCh38
NC_000011.9:g.116313364G>A , CM000673.1:g.116313364G>A GRCh37
NC_000011.8:g.115818574G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001748403.1:n.349+31230C>T
Search 100 bp 5'
Search 100 bp 3'