Canonical Allele Identifier: CA12176438
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.475489C>T , CM000668.2:g.475489C>T GRCh38
NC_000006.11:g.475489C>T , CM000668.1:g.475489C>T GRCh37
NC_000006.10:g.420489C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926364.1:n.2715-9204C>T
XR_926365.1:n.2549-9204C>T
XR_001743914.1:n.763C>T