Canonical Allele Identifier: CA98367536
Gene:

Linked Data

dbSNP Id: rs1038495923
gnomAD v2: 4-63423770-T-G
gnomAD v3: 4-62558052-T-G
gnomAD v4: 4-62558052-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558052T>G , CM000666.2:g.62558052T>G GRCh38
NC_000004.11:g.63423770T>G , CM000666.1:g.63423770T>G GRCh37
NC_000004.10:g.63106365T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5792T>G