Canonical Allele Identifier: CA2112050322
Gene:

Linked Data

dbSNP Id: rs1878597556
gnomAD v3: 13-94852917-G-A
gnomAD v4: 13-94852917-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.94852917G>A , CM000675.2:g.94852917G>A GRCh38
NC_000013.10:g.95505171G>A , CM000675.1:g.95505171G>A GRCh37
NC_000013.9:g.94303172G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_110754.1:n.257-52547G>A
Search 100 bp 5'
Search 100 bp 3'