Canonical Allele Identifier: CA797158633
Gene:

Linked Data

dbSNP Id: rs1431707707
gnomAD v3: 4-62558152-C-G
gnomAD v4: 4-62558152-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558152C>G , CM000666.2:g.62558152C>G GRCh38
NC_000004.11:g.63423870C>G , CM000666.1:g.63423870C>G GRCh37
NC_000004.10:g.63106465C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5692C>G