Canonical Allele Identifier: CA982865620
Gene:

Linked Data

dbSNP Id: rs1388243378
gnomAD v3: 17-30237198-C-G
gnomAD v4: 17-30237198-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237198C>G , CM000679.2:g.30237198C>G GRCh38
NC_000017.10:g.28564216C>G , CM000679.1:g.28564216C>G GRCh37
NC_000017.9:g.25588342C>G NCBI36
NG_011747.2:g.3739G>C

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+128C>G
XR_001752824.1:n.280+128C>G
Search 100 bp 5'
Search 100 bp 3'