Canonical Allele Identifier: CA98367535
Gene:

Linked Data

dbSNP Id: rs562110910
gnomAD v3: 4-62558045-C-G
gnomAD v4: 4-62558045-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558045C>G , CM000666.2:g.62558045C>G GRCh38
NC_000004.11:g.63423763C>G , CM000666.1:g.63423763C>G GRCh37
NC_000004.10:g.63106358C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5799C>G