Canonical Allele Identifier: CA2659026016
Gene:

Linked Data

gnomAD v4: 2-52722538-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.52722538C>A , CM000664.2:g.52722538C>A GRCh38
NC_000002.11:g.52949676C>A , CM000664.1:g.52949676C>A GRCh37
NC_000002.10:g.52803180C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002959384.1:n.719G>T