Canonical Allele Identifier: CA98367520
Gene:

Linked Data

dbSNP Id: rs555359785
gnomAD v3: 4-62557924-T-G
gnomAD v4: 4-62557924-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62557924T>G , CM000666.2:g.62557924T>G GRCh38
NC_000004.11:g.63423642T>G , CM000666.1:g.63423642T>G GRCh37
NC_000004.10:g.63106237T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5920T>G