Canonical Allele Identifier: CA942571891
Gene:

Linked Data

dbSNP Id: rs1861334991
gnomAD v3: 11-116442645-T-C
gnomAD v4: 11-116442645-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116442645T>C , CM000673.2:g.116442645T>C GRCh38
NC_000011.9:g.116313362T>C , CM000673.1:g.116313362T>C GRCh37
NC_000011.8:g.115818572T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001748403.1:n.349+31232A>G
Search 100 bp 5'
Search 100 bp 3'