Canonical Allele Identifier: CA287548682
Gene:

Linked Data

dbSNP Id: rs545075184
gnomAD v3: 17-8137853-A-G
gnomAD v4: 17-8137853-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137853A>G , CM000679.2:g.8137853A>G GRCh38
NC_000017.10:g.8041171A>G , CM000679.1:g.8041171A>G GRCh37
NC_000017.9:g.7981896A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-996A>G
XR_934203.1:n.70-1624A>G
XR_934202.2:n.414-996A>G