Canonical Allele Identifier: CA2599050912
Gene:

Linked Data

gnomAD v3: 4-62558364-C-T
gnomAD v4: 4-62558364-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558364C>T , CM000666.2:g.62558364C>T GRCh38
NC_000004.11:g.63424082C>T , CM000666.1:g.63424082C>T GRCh37
NC_000004.10:g.63106677C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_938814.1:n.161-5480C>T