Canonical Allele Identifier: CA2592474129
Gene:

Linked Data

gnomAD v3: 17-30237181-G-T
gnomAD v4: 17-30237181-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237181G>T , CM000679.2:g.30237181G>T GRCh38
NC_000017.10:g.28564199G>T , CM000679.1:g.28564199G>T GRCh37
NC_000017.9:g.25588325G>T NCBI36
NG_011747.2:g.3756C>A

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+111G>T
XR_001752824.1:n.280+111G>T
Search 100 bp 5'
Search 100 bp 3'