Canonical Allele Identifier: CA12364901
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7258384C>T , CM000668.2:g.7258384C>T GRCh38
NC_000006.11:g.7258617C>T , CM000668.1:g.7258617C>T GRCh37
NC_000006.10:g.7203616C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926433.1:n.219-2061C>T