Canonical Allele Identifier: CA982865254
Gene:

Linked Data

dbSNP Id: rs1907308963
gnomAD v3: 17-30237139-G-T
gnomAD v4: 17-30237139-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237139G>T , CM000679.2:g.30237139G>T GRCh38
NC_000017.10:g.28564157G>T , CM000679.1:g.28564157G>T GRCh37
NC_000017.9:g.25588283G>T NCBI36
NG_011747.2:g.3798C>A

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+69G>T
XR_001752824.1:n.280+69G>T
Search 100 bp 5'
Search 100 bp 3'