Canonical Allele Identifier: CA674857359
Gene:

Linked Data

dbSNP Id: rs1475169032
gnomAD v3: 11-2444569-T-G
gnomAD v4: 11-2444569-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444569T>G , CM000673.2:g.2444569T>G GRCh38
NC_000011.9:g.2465799T>G , CM000673.1:g.2465799T>G GRCh37
NC_000011.8:g.2422375T>G NCBI36
NG_008935.1:g.4579T>G , LRG_287:g.4579T>G

Transcript Alleles

HGVS Amino-acid Change
XR_930984.1:n.2A>C