Canonical Allele Identifier: CA98367516
Gene:

Linked Data

dbSNP Id: rs967479404
gnomAD v2: 4-63423636-C-T
gnomAD v3: 4-62557918-C-T
gnomAD v4: 4-62557918-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62557918C>T , CM000666.2:g.62557918C>T GRCh38
NC_000004.11:g.63423636C>T , CM000666.1:g.63423636C>T GRCh37
NC_000004.10:g.63106231C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5926C>T