Canonical Allele Identifier: CA98367526
Gene:

Linked Data

dbSNP Id: rs1017602337
gnomAD v3: 4-62557977-C-T
gnomAD v4: 4-62557977-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62557977C>T , CM000666.2:g.62557977C>T GRCh38
NC_000004.11:g.63423695C>T , CM000666.1:g.63423695C>T GRCh37
NC_000004.10:g.63106290C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5867C>T