Canonical Allele Identifier: CA543840926
Gene:

Linked Data

dbSNP Id: rs1265108915
gnomAD v2: 3-70626262-C-T
gnomAD v3: 3-70577111-C-T
gnomAD v4: 3-70577111-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.70577111C>T , CM000665.2:g.70577111C>T GRCh38
NC_000003.11:g.70626262C>T , CM000665.1:g.70626262C>T GRCh37
NC_000003.10:g.70708952C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940947.1:n.407-1158G>A
XR_001740559.1:n.367-1158G>A