Canonical Allele Identifier: CA982865518
Gene:

Linked Data

dbSNP Id: rs1597650253
gnomAD v3: 17-30237175-T-G
gnomAD v4: 17-30237175-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237175T>G , CM000679.2:g.30237175T>G GRCh38
NC_000017.10:g.28564193T>G , CM000679.1:g.28564193T>G GRCh37
NC_000017.9:g.25588319T>G NCBI36
NG_011747.2:g.3762A>C

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+105T>G
XR_001752824.1:n.280+105T>G
Search 100 bp 5'
Search 100 bp 3'