Canonical Allele Identifier: CA1462694174
Gene:

Linked Data

dbSNP Id: rs1756226235
gnomAD v3: 4-62558038-G-A
gnomAD v4: 4-62558038-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558038G>A , CM000666.2:g.62558038G>A GRCh38
NC_000004.11:g.63423756G>A , CM000666.1:g.63423756G>A GRCh37
NC_000004.10:g.63106351G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5806G>A
Search 100 bp 5'
Search 100 bp 3'