Canonical Allele Identifier: CA168844865
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142490201C>T , CM000669.2:g.142490201C>T GRCh38
NC_000007.12:g.141858674C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745389.1:n.76-21890G>A
XR_001745390.1:n.61+9983G>A
XR_002956589.1:n.76-21890G>A