Canonical Allele Identifier: CA725798467
Gene:

Linked Data

dbSNP Id: rs1482432487
gnomAD v3: 16-9249552-A-G
gnomAD v4: 16-9249552-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249552A>G , CM000678.2:g.9249552A>G GRCh38
NC_000016.9:g.9343409A>G , CM000678.1:g.9343409A>G GRCh37
NC_000016.8:g.9250910A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64819A>G