Canonical Allele Identifier: CA337768402
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.15311440C>T , CM000686.2:g.15311440C>T GRCh38
NC_000024.9:g.17423320C>T , CM000686.1:g.17423320C>T GRCh37
NC_000024.8:g.15932714C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001756089.1:n.309+37229G>A