Canonical Allele Identifier: CA674857350
Gene:

Linked Data

dbSNP Id: rs1353000574
gnomAD v3: 11-2444555-C-A
gnomAD v4: 11-2444555-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444555C>A , CM000673.2:g.2444555C>A GRCh38
NC_000011.9:g.2465785C>A , CM000673.1:g.2465785C>A GRCh37
NC_000011.8:g.2422361C>A NCBI36
NG_008935.1:g.4565C>A , LRG_287:g.4565C>A

Transcript Alleles

HGVS Amino-acid Change
XR_930984.1:n.16G>T