Canonical Allele Identifier: CA11960042
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.5792394C>T , CM000667.2:g.5792394C>T GRCh38
NC_000005.9:g.5792507C>T , CM000667.1:g.5792507C>T GRCh37
NC_000005.8:g.5845507C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925733.1:n.1033-1607C>T
XR_925733.3:n.185-1607C>T