Canonical Allele Identifier: CA77076765
Gene:

Linked Data

dbSNP Id: rs552132179
gnomAD v2: 3-70626287-G-A
gnomAD v3: 3-70577136-G-A
gnomAD v4: 3-70577136-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.70577136G>A , CM000665.2:g.70577136G>A GRCh38
NC_000003.11:g.70626287G>A , CM000665.1:g.70626287G>A GRCh37
NC_000003.10:g.70708977G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940947.1:n.407-1183C>T
XR_001740559.1:n.367-1183C>T