Canonical Allele Identifier: CA981245664
Gene:

Linked Data

dbSNP Id: rs1981885624
gnomAD v3: 17-8137192-C-G
gnomAD v4: 17-8137192-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137192C>G , CM000679.2:g.8137192C>G GRCh38
NC_000017.10:g.8040510C>G , CM000679.1:g.8040510C>G GRCh37
NC_000017.9:g.7981235C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1657C>G
XR_934203.1:n.70-2285C>G
XR_934202.2:n.414-1657C>G