Canonical Allele Identifier: CA982866861
Gene:

Linked Data

dbSNP Id: rs1907329138
gnomAD v3: 17-30237375-G-C
gnomAD v4: 17-30237375-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237375G>C , CM000679.2:g.30237375G>C GRCh38
NC_000017.10:g.28564393G>C , CM000679.1:g.28564393G>C GRCh37
NC_000017.9:g.25588519G>C NCBI36
NG_011747.2:g.3562C>G

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.166-267G>C
XR_001752824.1:n.281-267G>C
Search 100 bp 5'
Search 100 bp 3'