Canonical Allele Identifier: CA982866010
Gene:

Linked Data

gnomAD v3: 17-30237264-G-C
gnomAD v4: 17-30237264-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237264G>C , CM000679.2:g.30237264G>C GRCh38
NC_000017.10:g.28564282G>C , CM000679.1:g.28564282G>C GRCh37
NC_000017.9:g.25588408G>C NCBI36
NG_011747.2:g.3673C>G

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+194G>C
XR_001752824.1:n.280+194G>C
Search 100 bp 5'
Search 100 bp 3'