Canonical Allele Identifier: CA1063282178
Gene:

Linked Data

dbSNP Id: rs1756229032
gnomAD v3: 4-62558231-A-G
gnomAD v4: 4-62558231-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558231A>G , CM000666.2:g.62558231A>G GRCh38
NC_000004.11:g.63423949A>G , CM000666.1:g.63423949A>G GRCh37
NC_000004.10:g.63106544A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5613A>G