Canonical Allele Identifier: CA982866562
Gene:

Linked Data

gnomAD v3: 17-30237316-C-G
gnomAD v4: 17-30237316-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237316C>G , CM000679.2:g.30237316C>G GRCh38
NC_000017.10:g.28564334C>G , CM000679.1:g.28564334C>G GRCh37
NC_000017.9:g.25588460C>G NCBI36
NG_011747.2:g.3621G>C

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+246C>G
XR_001752824.1:n.280+246C>G
Search 100 bp 5'
Search 100 bp 3'