Canonical Allele Identifier: CA982865609
Gene:

Linked Data

dbSNP Id: rs1597650277
gnomAD v3: 17-30237196-T-A
gnomAD v4: 17-30237196-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237196T>A , CM000679.2:g.30237196T>A GRCh38
NC_000017.10:g.28564214T>A , CM000679.1:g.28564214T>A GRCh37
NC_000017.9:g.25588340T>A NCBI36
NG_011747.2:g.3741A>T

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+126T>A
XR_001752824.1:n.280+126T>A
Search 100 bp 5'
Search 100 bp 3'