Canonical Allele Identifier: CA16352880
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.1712562T>C , CM000671.2:g.1712562T>C GRCh38
NC_000009.11:g.1712562T>C , CM000671.1:g.1712562T>C GRCh37
NC_000009.10:g.1702562T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746599.1:n.97-6305T>C