Canonical Allele Identifier: CA680186655
Gene:

Linked Data

dbSNP Id: rs1395572792
gnomAD v3: 11-746918-T-C
gnomAD v4: 11-746918-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.746918T>C , CM000673.2:g.746918T>C GRCh38
NC_000011.9:g.746918T>C , CM000673.1:g.746918T>C GRCh37
NC_000011.8:g.736918T>C NCBI36
NG_008160.1:g.4487T>C

Transcript Alleles

HGVS Amino-acid change
XR_930962.1:n.328T>C
XR_930963.1:n.259+69T>C
XR_930962.2:n.2420T>C