Canonical Allele Identifier: CA982866772
Gene:

Linked Data

dbSNP Id: rs2143017439
gnomAD v3: 17-30237351-G-A
gnomAD v4: 17-30237351-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237351G>A , CM000679.2:g.30237351G>A GRCh38
NC_000017.10:g.28564369G>A , CM000679.1:g.28564369G>A GRCh37
NC_000017.9:g.25588495G>A NCBI36
NG_011747.2:g.3586C>T

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+281G>A
XR_001752824.1:n.280+281G>A
Search 100 bp 5'
Search 100 bp 3'