Canonical Allele Identifier: CA15813112
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24634456T>C , CM000676.2:g.24634456T>C GRCh38
NC_000014.8:g.25103662T>C , CM000676.1:g.25103662T>C GRCh37
NC_000014.7:g.24173502T>C NCBI36
NG_028340.1:g.4771A>G

Transcript Alleles

HGVS Amino-acid Change
XR_001750665.1:n.428T>C