Canonical Allele Identifier: CA552053200
Gene:

Linked Data

dbSNP Id: rs1349828437
gnomAD v2: 4-63423660-C-G
gnomAD v3: 4-62557942-C-G
gnomAD v4: 4-62557942-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62557942C>G , CM000666.2:g.62557942C>G GRCh38
NC_000004.11:g.63423660C>G , CM000666.1:g.63423660C>G GRCh37
NC_000004.10:g.63106255C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5902C>G