Canonical Allele Identifier: CA725798440
Gene:

Linked Data

dbSNP Id: rs1364516180
gnomAD v3: 16-9249473-C-G
gnomAD v4: 16-9249473-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249473C>G , CM000678.2:g.9249473C>G GRCh38
NC_000016.9:g.9343330C>G , CM000678.1:g.9343330C>G GRCh37
NC_000016.8:g.9250831C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64740C>G