Canonical Allele Identifier: CA216951786
Gene:

Linked Data

dbSNP Id: rs1037192337
gnomAD v2: 11-746901-C-T
gnomAD v3: 11-746901-C-T
gnomAD v4: 11-746901-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.746901C>T , CM000673.2:g.746901C>T GRCh38
NC_000011.9:g.746901C>T , CM000673.1:g.746901C>T GRCh37
NC_000011.8:g.736901C>T NCBI36
NG_008160.1:g.4470C>T

Transcript Alleles

HGVS Amino-acid change
XR_930962.1:n.311C>T
XR_930963.1:n.259+52C>T
XR_930962.2:n.2403C>T