Canonical Allele Identifier: CA974496559
Gene:

Linked Data

dbSNP Id: rs1898217398
gnomAD v3: 16-9249694-T-G
gnomAD v4: 16-9249694-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249694T>G , CM000678.2:g.9249694T>G GRCh38
NC_000016.9:g.9343551T>G , CM000678.1:g.9343551T>G GRCh37
NC_000016.8:g.9251052T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64961T>G