Canonical Allele Identifier: CA982865814
Gene:

Linked Data

dbSNP Id: rs1907315613
gnomAD v3: 17-30237244-A-C
gnomAD v4: 17-30237244-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237244A>C , CM000679.2:g.30237244A>C GRCh38
NC_000017.10:g.28564262A>C , CM000679.1:g.28564262A>C GRCh37
NC_000017.9:g.25588388A>C NCBI36
NG_011747.2:g.3693T>G

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+174A>C
XR_001752824.1:n.280+174A>C
Search 100 bp 5'
Search 100 bp 3'