Canonical Allele Identifier: CA1049292732
Gene:

Linked Data

gnomAD v3: 3-70577133-G-T
gnomAD v4: 3-70577133-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.70577133G>T , CM000665.2:g.70577133G>T GRCh38
NC_000003.11:g.70626284G>T , CM000665.1:g.70626284G>T GRCh37
NC_000003.10:g.70708974G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940947.1:n.407-1180C>A
XR_001740559.1:n.367-1180C>A