Canonical Allele Identifier: CA98367596
Gene:

Linked Data

dbSNP Id: rs1039285231
gnomAD v3: 4-62558440-A-G
gnomAD v4: 4-62558440-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558440A>G , CM000666.2:g.62558440A>G GRCh38
NC_000004.11:g.63424158A>G , CM000666.1:g.63424158A>G GRCh37
NC_000004.10:g.63106753A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5404A>G