Canonical Allele Identifier: CA1028006316
Gene:

Linked Data

dbSNP Id: rs1673965460
gnomAD v3: 2-17843847-C-G
gnomAD v4: 2-17843847-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.17843847C>G , CM000664.2:g.17843847C>G GRCh38
NC_000002.11:g.18025114C>G , CM000664.1:g.18025114C>G GRCh37
NC_000002.10:g.17888595C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939764.2:n.447+3847G>C