Canonical Allele Identifier: CA1042430023
Gene:

Linked Data

dbSNP Id: rs1689246882
gnomAD v3: 2-218216591-C-T
gnomAD v4: 2-218216591-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218216591C>T , CM000664.2:g.218216591C>T GRCh38
NC_000002.11:g.219081314C>T , CM000664.1:g.219081314C>T GRCh37
NC_000002.10:g.218789559C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_241416.2:n.354G>A
XR_923908.1:n.351G>A
Search 100 bp 5'
Search 100 bp 3'