Canonical Allele Identifier: CA202037801
Gene:

Linked Data

dbSNP Id: rs763525819
gnomAD v3: 10-3366837-A-G
gnomAD v4: 10-3366837-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3366837A>G , CM000672.2:g.3366837A>G GRCh38
NC_000010.10:g.3409029A>G , CM000672.1:g.3409029A>G GRCh37
NC_000010.9:g.3399029A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_131187.1:n.162+47981A>G