Canonical Allele Identifier: CA982865779
Gene:

Linked Data

dbSNP Id: rs1907315450
gnomAD v3: 17-30237242-G-A
gnomAD v4: 17-30237242-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237242G>A , CM000679.2:g.30237242G>A GRCh38
NC_000017.10:g.28564260G>A , CM000679.1:g.28564260G>A GRCh37
NC_000017.9:g.25588386G>A NCBI36
NG_011747.2:g.3695C>T

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+172G>A
XR_001752824.1:n.280+172G>A
Search 100 bp 5'
Search 100 bp 3'