Canonical Allele Identifier: CA2592474111
Gene:

Linked Data

dbSNP Id: rs2143017339
gnomAD v3: 17-30237063-A-G
gnomAD v4: 17-30237063-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237063A>G , CM000679.2:g.30237063A>G GRCh38
NC_000017.10:g.28564081A>G , CM000679.1:g.28564081A>G GRCh37
NC_000017.9:g.25588207A>G NCBI36
NG_011747.2:g.3874T>C

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.158A>G
XR_001752824.1:n.273A>G
Search 100 bp 5'
Search 100 bp 3'