Canonical Allele Identifier: CA982865503
Gene:

Linked Data

gnomAD v3: 17-30237175-T-C
gnomAD v4: 17-30237175-T-C
JSON-LD

Genomic Alleles

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

Transcript Alleles

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